nsv4727932
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,161
- 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: 1257 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1077 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 1031 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1073 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1127 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727932 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,220,156 | 54,242,310 |
| nsv4727932 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,140 | 217,300 |
| nsv4727932 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 195,140 | 217,298 |
| nsv4727932 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,144 | 217,299 |
| nsv4727932 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 194,956 | 217,081 |
| nsv4727932 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,724,026 | 54,746,186 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253599 | copy number gain | Sequencing | Read depth | Breast cancer |
| nssv16253600 | copy number gain | Sequencing | Read depth | Breast cancer |
| nssv16253593 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253594 | copy number gain | Sequencing | Read depth | Breast cancer |
| nssv16253603 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253604 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253602 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253599 | Remapped | Perfect | NT_187693.1:g.1951 40_214079dup | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,140 | 214,079 |
| nssv16253600 | Remapped | Perfect | NT_187693.1:g.1955 13_197548dup | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,513 | 197,548 |
| nssv16253593 | Remapped | Perfect | NT_187693.1:g.1955 13_197962del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,513 | 197,962 |
| nssv16253594 | Remapped | Perfect | NT_187693.1:g.1955 13_214941dup | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,513 | 214,941 |
| nssv16253603 | Remapped | Perfect | NT_187693.1:g.1977 34_216868del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 197,734 | 216,868 |
| nssv16253604 | Remapped | Perfect | NT_187693.1:g.2148 92_215566del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 214,892 | 215,566 |
| nssv16253602 | Remapped | Perfect | NT_187693.1:g.2152 65_217300del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 215,265 | 217,300 |
| nssv16253599 | Remapped | Good | NW_003571061.2:g.1 95140_214077dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 195,140 | 214,077 |
| nssv16253594 | Remapped | Good | NW_003571061.2:g.1 95513_214939dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 195,513 | 214,939 |
| nssv16253604 | Remapped | Perfect | NW_003571061.2:g.2 14890_215564del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 214,890 | 215,564 |
| nssv16253602 | Remapped | Perfect | NW_003571061.2:g.2 15263_217298del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 215,263 | 217,298 |
| nssv16253599 | Remapped | Good | NW_003571060.1:g.1 95144_214078dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,144 | 214,078 |
| nssv16253600 | Remapped | Perfect | NW_003571060.1:g.1 95517_197552dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,517 | 197,552 |
| nssv16253593 | Remapped | Perfect | NW_003571060.1:g.1 95517_197966del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,517 | 197,966 |
| nssv16253594 | Remapped | Good | NW_003571060.1:g.1 95517_214940dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,517 | 214,940 |
| nssv16253603 | Remapped | Good | NW_003571060.1:g.1 97738_216867del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 197,738 | 216,867 |
| nssv16253604 | Remapped | Perfect | NW_003571060.1:g.2 14891_215565del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 214,891 | 215,565 |
| nssv16253602 | Remapped | Perfect | NW_003571060.1:g.2 15264_217299del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 215,264 | 217,299 |
| nssv16253599 | Remapped | Good | NW_003571054.1:g.1 94956_213862dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 194,956 | 213,862 |
| nssv16253600 | Remapped | Good | NW_003571054.1:g.1 95329_197362dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,329 | 197,362 |
| nssv16253593 | Remapped | Good | NW_003571054.1:g.1 95329_197776del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,329 | 197,776 |
| nssv16253594 | Remapped | Good | NW_003571054.1:g.1 95329_214724dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,329 | 214,724 |
| nssv16253603 | Remapped | Good | NW_003571054.1:g.1 97548_216649del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 197,548 | 216,649 |
| nssv16253604 | Remapped | Perfect | NW_003571054.1:g.2 14675_215349del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 214,675 | 215,349 |
| nssv16253602 | Remapped | Good | NW_003571054.1:g.2 15048_217081del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 215,048 | 217,081 |
| nssv16253599 | Remapped | Good | NC_000019.10:g.542 20156_54239089dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,156 | 54,239,089 |
| nssv16253600 | Remapped | Good | NC_000019.10:g.542 20529_54222562dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,529 | 54,222,562 |
| nssv16253593 | Remapped | Good | NC_000019.10:g.542 20529_54222976del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,529 | 54,222,976 |
| nssv16253594 | Remapped | Good | NC_000019.10:g.542 20529_54239951dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,529 | 54,239,951 |
| nssv16253603 | Remapped | Good | NC_000019.10:g.542 22748_54241878del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,222,748 | 54,241,878 |
| nssv16253604 | Remapped | Perfect | NC_000019.10:g.542 39902_54240576del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,239,902 | 54,240,576 |
| nssv16253602 | Remapped | Perfect | NC_000019.10:g.542 40275_54242310del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,240,275 | 54,242,310 |
| nssv16253599 | Submitted genomic | NC_000019.9:g.5472 4026_54742965dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,026 | 54,742,965 | ||
| nssv16253600 | Submitted genomic | NC_000019.9:g.5472 4399_54726434dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,399 | 54,726,434 | ||
| nssv16253593 | Submitted genomic | NC_000019.9:g.5472 4399_54726848del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,399 | 54,726,848 | ||
| nssv16253594 | Submitted genomic | NC_000019.9:g.5472 4399_54743827dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,399 | 54,743,827 | ||
| nssv16253603 | Submitted genomic | NC_000019.9:g.5472 6620_54745754del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,726,620 | 54,745,754 | ||
| nssv16253604 | Submitted genomic | NC_000019.9:g.5474 3778_54744452del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,743,778 | 54,744,452 | ||
| nssv16253602 | Submitted genomic | NC_000019.9:g.5474 4151_54746186del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,744,151 | 54,746,186 |