nsv4728006
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,186
- 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: 144 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4728006 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 175,959,970 | 175,965,155 |
nsv4728006 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 175,386,973 | 175,392,158 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
nssv16253730 | copy number loss | Sequencing | Read depth | Breast cancer |
nssv16253731 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253732 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253738 | copy number loss | Sequencing | Read depth | Breast cancer |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16253730 | Remapped | Perfect | NC_000005.10:g.175 959970_175961434de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 175,959,970 | 175,961,434 |
nssv16253731 | Remapped | Perfect | NC_000005.10:g.175 959970_175961434du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 175,959,970 | 175,961,434 |
nssv16253732 | Remapped | Perfect | NC_000005.10:g.175 961052_175961434du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 175,961,052 | 175,961,434 |
nssv16253738 | Remapped | Perfect | NC_000005.10:g.175 961052_175965155de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 175,961,052 | 175,965,155 |
nssv16253730 | Submitted genomic | NC_000005.9:g.1753 86973_175388437del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 175,386,973 | 175,388,437 | ||
nssv16253731 | Submitted genomic | NC_000005.9:g.1753 86973_175388437dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 175,386,973 | 175,388,437 | ||
nssv16253732 | Submitted genomic | NC_000005.9:g.1753 88055_175388437dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 175,388,055 | 175,388,437 | ||
nssv16253738 | Submitted genomic | NC_000005.9:g.1753 88055_175392158del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 175,388,055 | 175,392,158 |