nsv5388880
- 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:196
- Description:nsv4949283 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: 155 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 155 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5388880 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 179,264,865 | 179,265,060 |
| nsv5388880 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 29,572 | 29,767 |
| nsv5388880 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 178,691,866 | 178,692,061 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16873202 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16873202 | Remapped | Perfect | NW_016107298.1:g.2 9572_29767dup | GRCh38.p12 | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 29,572 | 29,767 |
| nssv16873202 | Remapped | Perfect | NC_000005.10:g.179 264865_179265060du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 179,264,865 | 179,265,060 |
| nssv16873202 | Submitted genomic | NC_000005.9:g.1786 91866_178692061dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 178,691,866 | 178,692,061 |
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) |
|---|---|---|---|
| nssv16873202 | 0.059 | 1733 | 29246 |