nsv4634372
- 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:4,360
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: 390 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 388 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634372 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 80,076,873 | 80,081,232 |
| nsv4634372 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 15,851 | 20,210 |
| nsv4634372 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 79,332,372 | 79,336,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16153606 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16153606 | Remapped | Perfect | NT_187635.1:g.(?_1 5851)_(20210_?)del | GRCh38.p12 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 15,851 | 20,210 |
| nssv16153606 | Remapped | Perfect | NC_000023.11:g.(?_ 80076873)_(8008123 2_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 80,076,873 | 80,081,232 |
| nssv16153606 | Submitted genomic | NC_000023.10:g.(?_ 79332372)_(7933673 1_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,332,372 | 79,336,731 |
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) |
|---|---|---|---|
| nssv16153606 | 0.008 | 16 | 1892 |