nsv6131623
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34
- Description:nsv5541970 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 152 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6131623 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,974,725 | 40,974,758 |
| nsv6131623 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 124,120 | 124,153 |
| nsv6131623 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,130,977 | 39,131,010 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17957981 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957981 | Remapped | Perfect | NW_003871091.1:g.1 24120_124153ins? | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 124,120 | 124,153 |
| nssv17957981 | Remapped | Perfect | NC_000017.11:g.409 74725_40974758ins? | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,974,725 | 40,974,758 |
| nssv17957981 | Submitted genomic | NC_000017.10:g.391 30977_39131010ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,130,977 | 39,131,010 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17957981 | 0.197 | 1108 | 5626 |