nsv5392462
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:156,776
- Description:nsv5013760 from Abel et. al 2020. 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: 3665 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1543 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 3483 SVs from 104 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392462 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,135,406 | 46,292,181 |
| nsv5392462 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,513 | 954,783 |
| nsv5392462 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,212,772 | 44,369,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16869201 | duplication | Curated | Curated |
| nssv16887429 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16869201 | Remapped | Pass | NT_187663.1:g.8375 13_954783dup | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,513 | 954,783 |
| nssv16887429 | Remapped | Pass | NT_187663.1:g.8375 13_954783dup | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,513 | 954,783 |
| nssv16869201 | Remapped | Perfect | NC_000017.11:g.461 35406_46292181dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,406 | 46,292,181 |
| nssv16887429 | Remapped | Perfect | NC_000017.11:g.461 35406_46292181dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,135,406 | 46,292,181 |
| nssv16869201 | Submitted genomic | NC_000017.10:g.442 12772_44369547dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,772 | 44,369,547 | ||
| nssv16887429 | Submitted genomic | NC_000017.10:g.442 12772_44369547dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,772 | 44,369,547 |
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) |
|---|---|---|---|
| nssv16869201 | 0.141 | 4133 | 29246 |
| nssv16887429 | 0.069 | 1158 | 16834 |