nsv4727991
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,731
- Publication(s):Boujemaa et al. 2021
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: 881 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 571 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 572 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 585 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 596 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 596 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 885 SVs from 94 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,721,009 | 195,729,739 |
| nsv4727991 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 64,961 | 73,191 |
| nsv4727991 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 64,969 | 73,189 |
| nsv4727991 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 65,130 | 73,412 |
| nsv4727991 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 66,305 | 75,035 |
| nsv4727991 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 91,506 | 100,236 |
| nsv4727991 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 64,961 | 73,192 |
| nsv4727991 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 91,506 | 100,236 |
| nsv4727991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,447,880 | 195,456,610 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253712 | copy number gain | Sequencing | Read depth | Breast cancer |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253712 | Remapped | Pass | NT_187688.1:g.6496 1_73191dup | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 64,961 | 73,191 |
| nssv16253712 | Remapped | Pass | NT_187690.1:g.6496 9_73189dup | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 64,969 | 73,189 |
| nssv16253712 | Remapped | Pass | NT_187691.1:g.6513 0_73412dup | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 65,130 | 73,412 |
| nssv16253712 | Remapped | Perfect | NT_187678.1:g.6630 5_75035dup | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 66,305 | 75,035 |
| nssv16253712 | Remapped | Perfect | NT_187689.1:g.9150 6_100236dup | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 91,506 | 100,236 |
| nssv16253712 | Remapped | Pass | NT_187649.1:g.6496 1_73192dup | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 64,961 | 73,192 |
| nssv16253712 | Remapped | Perfect | NT_187532.1:g.9150 6_100236dup | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 91,506 | 100,236 |
| nssv16253712 | Remapped | Perfect | NC_000003.12:g.195 721009_195729739du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,721,009 | 195,729,739 |
| nssv16253712 | Submitted genomic | NC_000003.11:g.195 447880_195456610du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,447,880 | 195,456,610 |