nsv5391541
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:710,930
- Description:nsv4864680 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: 5545 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 2736 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 5365 SVs from 114 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5391541 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,578,419 | 46,289,348 |
| nsv5391541 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 280,558 | 954,783 |
| nsv5391541 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,655,785 | 44,366,714 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16870586 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16870586 | Remapped | Pass | NT_187663.1:g.2805 58_954783dup | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 280,558 | 954,783 |
| nssv16870586 | Remapped | Perfect | NC_000017.11:g.455 78419_46289348dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,578,419 | 46,289,348 |
| nssv16870586 | Submitted genomic | NC_000017.10:g.436 55785_44366714dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,655,785 | 44,366,714 |
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) |
|---|---|---|---|
| nssv16870586 | 0.06 | 1006 | 16834 |