nsv4670740
- 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:3,009
- Description:nsv4629686 from DECIPHER Consensus CNVs. 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: 169 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 169 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 | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4670740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 68,829,898 | 68,832,906 |
nsv4670740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 68,863,801 | 68,866,809 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16204598 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16204598 | Remapped | Perfect | NC_000016.10:g.(?_ 68829898)_(6883290 6_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 68,829,898 | 68,832,906 |
nssv16204598 | Submitted genomic | NC_000016.9:g.(?_6 8863801)_(68866809 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 68,863,801 | 68,866,809 |
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) |
---|---|---|---|
nssv16204598 | 0.011 | 5 | 450 |