nsv4591969
- 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:46
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: 129 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4591969 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 10,954,066 | 10,954,111 |
| nsv4591969 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 10,954,299 | 10,954,344 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16114801 | duplication | Curated | Curated |
| nssv16117522 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16114801 | Remapped | Perfect | NC_000006.12:g.(?_ 10954066)_(1095411 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 10,954,066 | 10,954,111 |
| nssv16117522 | Remapped | Perfect | NC_000006.12:g.(?_ 10954066)_(1095411 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 10,954,066 | 10,954,111 |
| nssv16114801 | Submitted genomic | NC_000006.11:g.(?_ 10954299)_(1095434 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 10,954,299 | 10,954,344 | ||
| nssv16117522 | Submitted genomic | NC_000006.11:g.(?_ 10954299)_(1095434 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 10,954,299 | 10,954,344 |
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) |
|---|---|---|---|
| nssv16114801 | 0.011 | 9 | 845 |
| nssv16117522 | 0.045 | 38 | 845 |