nsv4383222
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,077
- 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: 541 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 541 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383222 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nsv4383222 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615842 | copy number gain | 1-0787-003 | SNP array | Genotyping | 14 |
| nssv15627653 | copy number gain | 1-0533-001 | SNP array | Genotyping | 26 |
| nssv15654928 | copy number gain | 2-1631-003 | SNP array | Genotyping | 21 |
| nssv15658558 | copy number gain | 4-0047-001 | SNP array | Genotyping | 25 |
| nssv15661172 | copy number gain | 5-0054-001 | SNP array | Genotyping | 20 |
| nssv15665321 | copy number gain | 7-0005-003 | SNP array | Genotyping | 23 |
| nssv15666653 | copy number gain | 7-0127-003 | SNP array | Genotyping | 18 |
| nssv15666754 | copy number gain | 7-0108-003 | SNP array | Genotyping | 17 |
| nssv15668221 | copy number gain | 7-0181-003 | SNP array | Genotyping | 16 |
| nssv15672756 | copy number gain | 7-0336-004 | SNP array | Genotyping | 21 |
| nssv15695003 | copy number gain | 118960 | SNP array | Genotyping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615842 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15627653 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15654928 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15658558 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15661172 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15665321 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15666653 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15666754 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15668221 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15672756 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15695003 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(180975 830_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 180,975,830 |
| nssv15615842 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15627653 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15654928 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15658558 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15661172 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15665321 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15666653 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15666754 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15668221 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15672756 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 | ||
| nssv15695003 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804028 30_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,402,830 |