nsv3418821
- Organism: Homo sapiens
- Study:nstd164 (Karolak et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,178,058
- Publication(s):Karolak 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: 5551 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 5551 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3418821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 43,957,050 | 43,957,118 | 46,135,039 | 46,135,107 |
| nsv3418821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 43,957,152 | 43,957,220 | 46,135,141 | 46,135,209 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14814886 | copy number loss | P040 | Sequencing | Curated |
| nssv14814887 | copy number loss | P041 | Sequencing | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14814886 | Remapped | Perfect | NC_000005.10:g.(43 957050_43957118)_( 46135039_46135107) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 43,957,050 | 43,957,118 | 46,135,039 | 46,135,107 |
| nssv14814887 | Remapped | Perfect | NC_000005.10:g.(43 957050_43957118)_( 46135039_46135107) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 43,957,050 | 43,957,118 | 46,135,039 | 46,135,107 |
| nssv14814886 | Submitted genomic | NC_000005.9:g.(439 57152_43957220)_(4 6135141_46135209)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 43,957,152 | 43,957,220 | 46,135,141 | 46,135,209 | ||
| nssv14814887 | Submitted genomic | NC_000005.9:g.(439 57152_43957220)_(4 6135141_46135209)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 43,957,152 | 43,957,220 | 46,135,141 | 46,135,209 |