nsv4578340
- Organism: Homo sapiens
- Study:nstd181 (Alcoverro et al. 2020)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:182,528
- Description:CAMKMT
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: 810 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 810 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578340 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 44,437,294 | 44,619,821 |
| nsv4578340 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 44,664,433 | 44,846,960 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity |
|---|---|---|---|---|---|
| nssv16091767 | deletion | 17-3948 | Oligo aCGH | Probe signal intensity | Heterozygous |
| nssv16091768 | deletion | 18-2387 | Oligo aCGH | Probe signal intensity | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091767 | Remapped | Perfect | NC_000002.12:g.(?_ 44437294)_(4461982 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 44,437,294 | 44,619,821 |
| nssv16091768 | Remapped | Perfect | NC_000002.12:g.(?_ 44437294)_(4461982 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 44,437,294 | 44,619,821 |
| nssv16091767 | Submitted genomic | NC_000002.11:g.(?_ 44664433)_(4484696 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 44,664,433 | 44,846,960 | ||
| nssv16091768 | Submitted genomic | NC_000002.11:g.(?_ 44664433)_(4484696 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 44,664,433 | 44,846,960 |