nsv4730187
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:701,772
- 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: 1422 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 3091 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730187 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 61,785,368 | 62,487,139 | ||
| nsv4730187 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 44,960,294 | 46,798,440 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16257438 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16257515 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16255982 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16255947 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16258509 | inversion | SAMN00006466 | Sequencing | Genotyping | Homozygous | 335 |
| nssv16255877 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16257025 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16258557 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16256310 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16256547 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16257200 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16257305 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16258105 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16258500 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16257716 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16258290 | inversion | SAMN00001696 | Sequencing | Genotyping | Homozygous | 349 |
| nssv16258057 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16257438 | Submitted genomic | NC_000009.12:g.617 85368_62149739inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,785,368 | 62,149,739 | ||
| nssv16257515 | Submitted genomic | NC_000009.12:g.617 85368_62149739inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,785,368 | 62,149,739 | ||
| nssv16255982 | Submitted genomic | NC_000009.12:g.618 17864_61927345inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,817,864 | 61,927,345 | ||
| nssv16255947 | Submitted genomic | NC_000009.12:g.618 35933_62273791inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,835,933 | 62,273,791 | ||
| nssv16258509 | Submitted genomic | NC_000009.12:g.618 35933_62273791inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,835,933 | 62,273,791 | ||
| nssv16255877 | Submitted genomic | NC_000009.12:g.618 45726_61928869inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,845,726 | 61,928,869 | ||
| nssv16257025 | Submitted genomic | NC_000009.12:g.618 45726_61928869inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,845,726 | 61,928,869 | ||
| nssv16258557 | Submitted genomic | NC_000009.12:g.618 45726_61928869inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,845,726 | 61,928,869 | ||
| nssv16256310 | Submitted genomic | NC_000009.12:g.619 65851_62469531inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 61,965,851 | 62,469,531 | ||
| nssv16256547 | Submitted genomic | NC_000009.12:g.624 20001_62487139inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,420,001 | 62,487,139 | ||
| nssv16257200 | Submitted genomic | NC_000009.12:g.624 20001_62487139inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,420,001 | 62,487,139 | ||
| nssv16257305 | Submitted genomic | NC_000009.12:g.624 20001_62487139inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,420,001 | 62,487,139 | ||
| nssv16258105 | Submitted genomic | NC_000009.12:g.624 20001_62487139inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,420,001 | 62,487,139 | ||
| nssv16258500 | Submitted genomic | NC_000009.12:g.624 20001_62487139inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,420,001 | 62,487,139 | ||
| nssv16257716 | Submitted genomic | NC_000009.12:g.624 20648_62469510inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,420,648 | 62,469,510 | ||
| nssv16258290 | Submitted genomic | NC_000009.12:g.624 20648_62469510inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,420,648 | 62,469,510 | ||
| nssv16258057 | Submitted genomic | NC_000009.12:g.624 23471_62486004inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 62,423,471 | 62,486,004 | ||
| nssv16257438 | Remapped | Pass | NC_000009.11:g.449 60294_45697082inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,960,294 | 45,697,082 |
| nssv16257515 | Remapped | Pass | NC_000009.11:g.449 60294_45697082inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,960,294 | 45,697,082 |
| nssv16255947 | Remapped | Pass | NC_000009.11:g.449 72085_46585092inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,972,085 | 46,585,092 |
| nssv16258509 | Remapped | Pass | NC_000009.11:g.449 72085_46585092inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,972,085 | 46,585,092 |
| nssv16255877 | Remapped | Perfect | NC_000009.11:g.449 81878_45065021inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,981,878 | 45,065,021 |
| nssv16257025 | Remapped | Perfect | NC_000009.11:g.449 81878_45065021inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,981,878 | 45,065,021 |
| nssv16258557 | Remapped | Perfect | NC_000009.11:g.449 81878_45065021inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,981,878 | 45,065,021 |
| nssv16256310 | Remapped | Pass | NC_000009.11:g.451 02003_46780832inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,102,003 | 46,780,832 |
| nssv16256547 | Remapped | Perfect | NC_000009.11:g.467 31302_46798440inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,731,302 | 46,798,440 |
| nssv16257200 | Remapped | Perfect | NC_000009.11:g.467 31302_46798440inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,731,302 | 46,798,440 |
| nssv16257305 | Remapped | Perfect | NC_000009.11:g.467 31302_46798440inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,731,302 | 46,798,440 |
| nssv16258105 | Remapped | Perfect | NC_000009.11:g.467 31302_46798440inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,731,302 | 46,798,440 |
| nssv16258500 | Remapped | Perfect | NC_000009.11:g.467 31302_46798440inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,731,302 | 46,798,440 |
| nssv16257716 | Remapped | Perfect | NC_000009.11:g.467 31949_46780811inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,731,949 | 46,780,811 |
| nssv16258290 | Remapped | Perfect | NC_000009.11:g.467 31949_46780811inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,731,949 | 46,780,811 |
| nssv16258057 | Remapped | Perfect | NC_000009.11:g.467 34772_46797305inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 46,734,772 | 46,797,305 |