nsv4628238
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,430
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: 220 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4628238 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 44,711,343 | 44,738,743 |
| nsv4628238 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187605.1 | Chr15|NT_1 87605.1 | 34,692 | 62,121 |
| nsv4628238 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 45,003,541 | 45,030,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16138854 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16138854 | Remapped | Good | NT_187605.1:g.(?_3 4692)_(62121_?)dup | GRCh38.p12 | Second Pass | NT_187605.1 | Chr15|NT_1 87605.1 | 34,692 | 62,121 |
| nssv16138854 | Remapped | Perfect | NC_000015.10:g.(?_ 44711343)_(4473874 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 44,711,343 | 44,738,743 |
| nssv16138854 | Submitted genomic | NC_000015.9:g.(?_4 5003541)_(45030941 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 45,003,541 | 45,030,941 |
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) |
|---|---|---|---|
| nssv16138854 | 0.001 | 1 | 845 |