nsv5389529
- 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:31,725
- Description:nsv4868394 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: 1106 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1106 SVs from 87 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5389529 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 40,849,916 | 40,881,640 |
nsv5389529 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 41,355,821 | 41,387,545 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16886687 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16886687 | Remapped | Perfect | NC_000019.10:g.408 49916_40881640del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,849,916 | 40,881,640 |
nssv16886687 | Submitted genomic | NC_000019.9:g.4135 5821_41387545del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 41,355,821 | 41,387,545 |
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) |
---|---|---|---|
nssv16886687 | 0.013 | 213 | 16834 |