nsv4449720
- Organism: Homo sapiens
- Study:nstd177 (Louzada et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:106,001
- Publication(s):Louzada et al. 2020
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: 970 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 970 SVs from 85 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4449720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,964,586 | 143,966,586 | 144,068,586 | 144,070,586 |
nsv4449720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,885,739 | 144,887,739 | 144,989,739 | 144,991,739 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv15768599 | duplication | HGDP00543 | Sequencing | Read depth |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15768599 | Remapped | Perfect | NC_000004.12:g.(14 3964586_143966586) _(144068586_144070 586)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,964,586 | 143,966,586 | 144,068,586 | 144,070,586 |
nssv15768599 | Submitted genomic | NC_000004.11:g.(14 4885739_144887739) _(144989739_144991 739)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,885,739 | 144,887,739 | 144,989,739 | 144,991,739 |