nsv6624949
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:363,662
- Publication(s):Zarrei et al. 2023
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: 4047 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 4046 SVs from 108 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nsv6624949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281860 | deletion | OSC2206 | SNP array | Probe signal intensity | nssv18281859, nssv18282166, nssv18282491 |
| nssv18282443 | deletion | OSC2170 | SNP array | Probe signal intensity | nssv18281810, nssv18282741 |
| nssv18283331 | deletion | OSC2400 | SNP array | Probe signal intensity | |
| nssv18285123 | deletion | OSC2541 | SNP array | Probe signal intensity | 6 |
| nssv18285913 | deletion | OSC2955 | SNP array | Probe signal intensity | 5 |
| nssv18286706 | deletion | OSC3011 | SNP array | Probe signal intensity | 6 |
| nssv18287845 | deletion | OSC3151 | SNP array | Probe signal intensity | nssv18287846, nssv18288728, nssv18288729 |
| nssv18290272 | deletion | OSC0369 | SNP array | Probe signal intensity | 5 |
| nssv18294259 | duplication | OSC4259 | SNP array | Probe signal intensity | 9 |
| nssv18295086 | deletion | OSC4385 | SNP array | Probe signal intensity | 6 |
| nssv18295386 | deletion | OSC4577 | SNP array | Probe signal intensity | nssv18295929, nssv18295930, nssv18295931 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281860 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18282443 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18283331 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18285123 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18285913 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18286706 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18287845 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18290272 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18294259 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18295086 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18295386 | Remapped | Perfect | NC_000019.10:g.(?_ 42840534)_(4320419 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,840,534 | 43,204,195 |
| nssv18281860 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18282443 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18283331 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18285123 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18285913 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18286706 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18287845 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18290272 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18294259 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18295086 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 | ||
| nssv18295386 | Submitted genomic | NC_000019.9:g.(?_4 3344686)_(43708347 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,344,686 | 43,708,347 |