nsv5389014
- 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:1,110
- Description:nsv4951410 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: 192 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389014 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 154,569,160 | 154,570,269 |
| nsv5389014 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 146,809 | 147,918 |
| nsv5389014 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 154,266,245 | 154,267,354 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16878482 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16878482 | Remapped | Perfect | NW_012132919.1:g.1 46809_147918del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 146,809 | 147,918 |
| nssv16878482 | Remapped | Perfect | NC_000007.14:g.154 569160_154570269de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,569,160 | 154,570,269 |
| nssv16878482 | Submitted genomic | NC_000007.13:g.154 266245_154267354de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,266,245 | 154,267,354 |
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) |
|---|---|---|---|
| nssv16878482 | 0.01 | 291 | 29246 |