nsv4730087
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,296
- Publication(s):Hanlon et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 509 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 518 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730087 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 152,702,624 | 152,780,919 | ||
| nsv4730087 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 151,856,022 | 151,934,375 |
| nsv4730087 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 136,607 | 214,902 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16258569 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
| nssv16256222 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256247 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16256363 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256725 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16257461 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
| nssv16257500 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16257683 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16258432 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16258457 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16258855 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
| nssv16256840 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16257816 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
| nssv16258253 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16258362 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16258683 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16257897 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16258588 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16256592 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16257779 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256932 | inversion | HG00512 | Sequencing | Genotyping | Hemizygous | 328 |
| nssv16256062 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16258569 | Submitted genomic | NC_000023.11:g.152 702624_152743060in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,702,624 | 152,743,060 | ||
| nssv16256222 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16256247 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16256363 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16256725 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16257461 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16257500 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16257683 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16258432 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16258457 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16258855 | Submitted genomic | NC_000023.11:g.152 705955_152752524in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,705,955 | 152,752,524 | ||
| nssv16256840 | Submitted genomic | NC_000023.11:g.152 720403_152749366in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,720,403 | 152,749,366 | ||
| nssv16257816 | Submitted genomic | NC_000023.11:g.152 720403_152749366in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,720,403 | 152,749,366 | ||
| nssv16258253 | Submitted genomic | NC_000023.11:g.152 720403_152749366in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,720,403 | 152,749,366 | ||
| nssv16258362 | Submitted genomic | NC_000023.11:g.152 720403_152749366in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,720,403 | 152,749,366 | ||
| nssv16258683 | Submitted genomic | NC_000023.11:g.152 720403_152749366in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,720,403 | 152,749,366 | ||
| nssv16257897 | Submitted genomic | NC_000023.11:g.152 720940_152744624in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,720,940 | 152,744,624 | ||
| nssv16258588 | Submitted genomic | NC_000023.11:g.152 720942_152747619in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,720,942 | 152,747,619 | ||
| nssv16256592 | Submitted genomic | NC_000023.11:g.152 725277_152743251in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,725,277 | 152,743,251 | ||
| nssv16257779 | Submitted genomic | NC_000023.11:g.152 727475_152767510in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,727,475 | 152,767,510 | ||
| nssv16256932 | Submitted genomic | NC_000023.11:g.152 755383_152767294in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,755,383 | 152,767,294 | ||
| nssv16256062 | Submitted genomic | NC_000023.11:g.152 760120_152780919in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 152,760,120 | 152,780,919 | ||
| nssv16258569 | Remapped | Perfect | NW_003871103.3:g.1 36607_177043inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 136,607 | 177,043 |
| nssv16256222 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16256247 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16256363 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16256725 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16257461 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16257500 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16257683 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16258432 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16258457 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16258855 | Remapped | Perfect | NW_003871103.3:g.1 39938_186507inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 139,938 | 186,507 |
| nssv16256840 | Remapped | Perfect | NW_003871103.3:g.1 54386_183349inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 154,386 | 183,349 |
| nssv16257816 | Remapped | Perfect | NW_003871103.3:g.1 54386_183349inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 154,386 | 183,349 |
| nssv16258253 | Remapped | Perfect | NW_003871103.3:g.1 54386_183349inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 154,386 | 183,349 |
| nssv16258362 | Remapped | Perfect | NW_003871103.3:g.1 54386_183349inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 154,386 | 183,349 |
| nssv16258683 | Remapped | Perfect | NW_003871103.3:g.1 54386_183349inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 154,386 | 183,349 |
| nssv16257897 | Remapped | Perfect | NW_003871103.3:g.1 54923_178607inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 154,923 | 178,607 |
| nssv16258588 | Remapped | Perfect | NW_003871103.3:g.1 54925_181602inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 154,925 | 181,602 |
| nssv16256592 | Remapped | Perfect | NW_003871103.3:g.1 59260_177234inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 159,260 | 177,234 |
| nssv16257779 | Remapped | Perfect | NW_003871103.3:g.1 61458_201493inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 161,458 | 201,493 |
| nssv16256932 | Remapped | Perfect | NW_003871103.3:g.1 89366_201277inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 189,366 | 201,277 |
| nssv16256062 | Remapped | Perfect | NW_003871103.3:g.1 94103_214902inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 194,103 | 214,902 |
| nssv16256062 | Remapped | Good | NC_000023.10:g.151 856022_151876845in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,856,022 | 151,876,845 |
| nssv16257779 | Remapped | Good | NC_000023.10:g.151 869451_151909527in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,869,451 | 151,909,527 |
| nssv16256932 | Remapped | Good | NC_000023.10:g.151 869667_151881576in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,869,667 | 151,881,576 |
| nssv16256222 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16256247 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16256363 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16256725 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16257461 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16257500 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16257683 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16258432 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16258457 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16258855 | Remapped | Good | NC_000023.10:g.151 884435_151931044in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,884,435 | 151,931,044 |
| nssv16256840 | Remapped | Good | NC_000023.10:g.151 887593_151916591in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,887,593 | 151,916,591 |
| nssv16257816 | Remapped | Good | NC_000023.10:g.151 887593_151916591in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,887,593 | 151,916,591 |
| nssv16258253 | Remapped | Good | NC_000023.10:g.151 887593_151916591in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,887,593 | 151,916,591 |
| nssv16258362 | Remapped | Good | NC_000023.10:g.151 887593_151916591in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,887,593 | 151,916,591 |
| nssv16258683 | Remapped | Good | NC_000023.10:g.151 887593_151916591in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,887,593 | 151,916,591 |
| nssv16258588 | Remapped | Good | NC_000023.10:g.151 889338_151916052in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,889,338 | 151,916,052 |
| nssv16257897 | Remapped | Good | NC_000023.10:g.151 892337_151916054in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,892,337 | 151,916,054 |
| nssv16256592 | Remapped | Good | NC_000023.10:g.151 893710_151911725in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,893,710 | 151,911,725 |
| nssv16258569 | Remapped | Good | NC_000023.10:g.151 893901_151934375in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 151,893,901 | 151,934,375 |