nsv4383600
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:217,348
- Publication(s):Zarrei et al. 2019
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: 1305 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1305 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383600 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nsv4383600 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15622618 | copy number loss | 1-0255-002 | SNP array | Genotyping | 15 |
| nssv15626807 | copy number loss | 1-0455-001 | SNP array | Genotyping | 28 |
| nssv15627892 | copy number loss | 1-0455-003 | SNP array | Genotyping | 30 |
| nssv15627921 | copy number loss | 1-0455-004 | SNP array | Genotyping | 29 |
| nssv15630329 | copy number loss | 1-0609-002 | SNP array | Genotyping | 31 |
| nssv15635048 | copy number loss | 12-8214-002 | SNP array | Genotyping | 19 |
| nssv15659235 | copy number loss | 4-0074-002 | SNP array | Genotyping | 20 |
| nssv15659255 | copy number loss | 4-0074-003 | SNP array | Genotyping | 14 |
| nssv15659269 | copy number loss | 4-0074-004 | SNP array | Genotyping | 14 |
| nssv15665349 | copy number loss | 7-0032-003 | SNP array | Genotyping | 25 |
| nssv15666539 | copy number loss | 7-0092-003 | SNP array | Genotyping | 23 |
| nssv15673001 | copy number loss | 9-0020-003 | SNP array | Genotyping | 22 |
| nssv15682205 | copy number loss | 222684 | SNP array | Genotyping | 25 |
| nssv15699297 | copy number loss | 224726 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15622618 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15626807 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15627892 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15627921 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15630329 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15635048 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15659235 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15659255 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15659269 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15665349 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15666539 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15673001 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15682205 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15699297 | Remapped | Perfect | NC_000001.11:g.(?_ 189351206)_(189568 553_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,351,206 | 189,568,553 |
| nssv15622618 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15626807 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15627892 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15627921 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15630329 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15635048 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15659235 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15659255 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15659269 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15665349 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15666539 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15673001 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15682205 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 | ||
| nssv15699297 | Submitted genomic | NC_000001.10:g.(?_ 189320336)_(189537 683_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,320,336 | 189,537,683 |