nsv471353
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,456
- Description:CFHR1
- Publication(s):Alkan et al. 2009
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: 1322 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1322 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 8 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv471353 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 196,819,731 | 196,832,186 |
nsv471353 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 196,788,861 | 196,801,316 |
nsv471353 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 193,520,518 | 193,532,973 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv548052 | Remapped | Perfect | NC_000001.11:g.(19 6819731_?)_(?_1968 32186)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,819,731 | 196,832,186 |
nssv548053 | Remapped | Perfect | NC_000001.11:g.(19 6819731_?)_(?_1968 32186)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,819,731 | 196,832,186 |
nssv548054 | Remapped | Perfect | NC_000001.11:g.(19 6819731_?)_(?_1968 32186)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,819,731 | 196,832,186 |
nssv548052 | Remapped | Perfect | NC_000001.10:g.(19 6788861_?)_(?_1968 01316)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 196,788,861 | 196,801,316 |
nssv548053 | Remapped | Perfect | NC_000001.10:g.(19 6788861_?)_(?_1968 01316)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 196,788,861 | 196,801,316 |
nssv548054 | Remapped | Perfect | NC_000001.10:g.(19 6788861_?)_(?_1968 01316)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 196,788,861 | 196,801,316 |
nssv548052 | Submitted genomic | NC_000001.8:g.(193 520518_?)_(?_19353 2973)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 193,520,518 | 193,532,973 | ||
nssv548053 | Submitted genomic | NC_000001.8:g.(193 520518_?)_(?_19353 2973)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 193,520,518 | 193,532,973 | ||
nssv548054 | Submitted genomic | NC_000001.8:g.(193 520518_?)_(?_19353 2973)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 193,520,518 | 193,532,973 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv548052 | 4 | JDW | Oligo aCGH | Probe signal intensity | Pass |
nssv548053 | 4 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |
nssv548054 | 4 | YH | Oligo aCGH | Probe signal intensity | Pass |