nsv6209583
- Organism: Homo sapiens
- Study:nstd214 (Naslavsky et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Naslavsky 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: 107 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6209583 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 101,551,616 | 101,551,616 | ||
nsv6209583 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 104,313,898 | 104,313,898 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17920000 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17920000 | Submitted genomic | NC_000009.12:g.101 551616_101551617in s61 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 101,551,616 | 101,551,616 | ||
nssv17920000 | Remapped | Perfect | NC_000009.11:g.104 313898_104313899in s61 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 104,313,898 | 104,313,898 |
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) |
---|---|---|---|
nssv17920000 | 0.236 | 465 | 1970 |