nsv5389024
- 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:875
- Description:nsv4914136 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: 281 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 281 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389024 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 239,706,856 | 239,707,730 |
| nsv5389024 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332689.1 | Chr2|NW_01 1332689.1 | 9,953 | 10,827 |
| nsv5389024 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 240,628,550 | 240,629,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16881982 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16881982 | Remapped | Perfect | NW_011332689.1:g.9 953_10827dup | GRCh38.p12 | Second Pass | NW_011332689.1 | Chr2|NW_01 1332689.1 | 9,953 | 10,827 |
| nssv16881982 | Remapped | Perfect | NC_000002.12:g.239 706856_239707730du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 239,706,856 | 239,707,730 |
| nssv16881982 | Submitted genomic | NC_000002.11:g.240 628550_240629424du p | GRCh37 (hg19) | NC_000002.11 | Chr2 | 240,628,550 | 240,629,424 |
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) |
|---|---|---|---|
| nssv16881982 | 0.157 | 4578 | 29246 |