nsv4728120
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:565,518
- 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: 4625 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 4769 SVs from 104 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4728120 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,941,185 | 22,506,702 |
nsv4728120 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,409,370 | 22,975,687 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
nssv16253450 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253451 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253452 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253457 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253458 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253459 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253460 | copy number gain | Sequencing | Read depth | Breast cancer |
nssv16253461 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16253450 | Remapped | Good | NC_000014.9:g.2194 1185_22492907dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,941,185 | 22,492,907 |
nssv16253451 | Remapped | Perfect | NC_000014.9:g.2199 7885_22003673dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,997,885 | 22,003,673 |
nssv16253452 | Remapped | Good | NC_000014.9:g.2208 6453_22501663dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,086,453 | 22,501,663 |
nssv16253457 | Remapped | Good | NC_000014.9:g.2212 3528_22506702dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,123,528 | 22,506,702 |
nssv16253458 | Remapped | Good | NC_000014.9:g.2216 3350_22488652dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,163,350 | 22,488,652 |
nssv16253459 | Remapped | Good | NC_000014.9:g.2220 2584_22493990dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,202,584 | 22,493,990 |
nssv16253460 | Remapped | Perfect | NC_000014.9:g.2244 9114_22464322dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,449,114 | 22,464,322 |
nssv16253461 | Remapped | Good | NC_000014.9:g.2245 5250_22488652dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,455,250 | 22,488,652 |
nssv16253450 | Submitted genomic | NC_000014.8:g.2240 9370_22961894dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,409,370 | 22,961,894 | ||
nssv16253451 | Submitted genomic | NC_000014.8:g.2246 6124_22471912dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,466,124 | 22,471,912 | ||
nssv16253452 | Submitted genomic | NC_000014.8:g.2255 4730_22970647dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,554,730 | 22,970,647 | ||
nssv16253457 | Submitted genomic | NC_000014.8:g.2259 1486_22975687dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,591,486 | 22,975,687 | ||
nssv16253458 | Submitted genomic | NC_000014.8:g.2263 1246_22957640dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,631,246 | 22,957,640 | ||
nssv16253459 | Submitted genomic | NC_000014.8:g.2267 0478_22962976dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,670,478 | 22,962,976 | ||
nssv16253460 | Submitted genomic | NC_000014.8:g.2291 8106_22933314dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,918,106 | 22,933,314 | ||
nssv16253461 | Submitted genomic | NC_000014.8:g.2292 4242_22957640dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,924,242 | 22,957,640 |