nsv5417647
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:162,001
- Publication(s):Byrska-Bishop et al. 2022
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: 662 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 658 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5417647 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 103,920,542 | 104,082,542 | ||
| nsv5417647 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,175,125 | 103,327,236 |
| nsv5417647 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 56,958 | 218,958 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17737139 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17737139 | Submitted genomic | NC_000023.11:g.103 920542_104082542du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 103,920,542 | 104,082,542 | ||
| nssv17737139 | Remapped | Perfect | NW_004070885.1:g.5 6958_218958dup | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 56,958 | 218,958 |
| nssv17737139 | Remapped | Pass | NC_000023.10:g.103 175125_103327236du p | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,175,125 | 103,327,236 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17737139 | 0.001 | 7 | 4724 |