nsv4619770
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,568
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: 516 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 517 SVs from 48 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4619770 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,714,477 | 40,819,044 |
nsv4619770 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 42,086,403 | 42,190,970 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16144899 | deletion | Curated | Curated |
nssv16149096 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16144899 | Remapped | Perfect | NC_000021.9:g.(?_4 0714477)_(40819044 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,714,477 | 40,819,044 |
nssv16149096 | Remapped | Perfect | NC_000021.9:g.(?_4 0714477)_(40819044 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,714,477 | 40,819,044 |
nssv16144899 | Submitted genomic | NC_000021.8:g.(?_4 2086403)_(42190970 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,086,403 | 42,190,970 | ||
nssv16149096 | Submitted genomic | NC_000021.8:g.(?_4 2086403)_(42190970 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,086,403 | 42,190,970 |
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) |
---|---|---|---|
nssv16144899 | <0.001 | 1 | 5919 |
nssv16149096 | <0.001 | 3 | 5919 |