nsv4591848
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113,827
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: 604 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 604 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4591848 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 100,114,299 | 100,228,125 |
| nsv4591848 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 99,450,003 | 99,563,829 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16098597 | deletion | Curated | Curated |
| nssv16109791 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16098597 | Remapped | Perfect | NC_000005.10:g.(?_ 100114299)_(100228 125_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,114,299 | 100,228,125 |
| nssv16109791 | Remapped | Perfect | NC_000005.10:g.(?_ 100114299)_(100228 125_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,114,299 | 100,228,125 |
| nssv16098597 | Submitted genomic | NC_000005.9:g.(?_9 9450003)_(99563829 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,450,003 | 99,563,829 | ||
| nssv16109791 | Submitted genomic | NC_000005.9:g.(?_9 9450003)_(99563829 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,450,003 | 99,563,829 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16098597 | <0.001 | 1 | 5919 |
| nssv16109791 | <0.001 | 1 | 5919 |