nsv4671929
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,546
- Description:nsv4631097 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 266 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4671929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,088,279 | 36,089,824 |
| nsv4671929 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187661.1 | Chr17|NT_1 87661.1 | 42,376 | 43,921 |
| nsv4671929 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 323,153 | 324,698 |
| nsv4671929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,415,625 | 34,417,170 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16183228 | duplication | Curated | Curated |
| nssv16194851 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16183228 | Remapped | Perfect | NT_187661.1:g.(?_4 2376)_(43921_?)dup | GRCh38.p12 | Second Pass | NT_187661.1 | Chr17|NT_1 87661.1 | 42,376 | 43,921 |
| nssv16194851 | Remapped | Perfect | NT_187661.1:g.(?_4 2376)_(43921_?)del | GRCh38.p12 | Second Pass | NT_187661.1 | Chr17|NT_1 87661.1 | 42,376 | 43,921 |
| nssv16183228 | Remapped | Perfect | NT_187614.1:g.(?_3 23153)_(324698_?)d up | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 323,153 | 324,698 |
| nssv16194851 | Remapped | Perfect | NT_187614.1:g.(?_3 23153)_(324698_?)d el | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 323,153 | 324,698 |
| nssv16183228 | Remapped | Perfect | NC_000017.11:g.(?_ 36088279)_(3608982 4_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,088,279 | 36,089,824 |
| nssv16194851 | Remapped | Perfect | NC_000017.11:g.(?_ 36088279)_(3608982 4_?)del | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,088,279 | 36,089,824 |
| nssv16183228 | Submitted genomic | NC_000017.10:g.(?_ 34415625)_(3441717 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,415,625 | 34,417,170 | ||
| nssv16194851 | Submitted genomic | NC_000017.10:g.(?_ 34415625)_(3441717 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,415,625 | 34,417,170 |
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) |
|---|---|---|---|
| nssv16183228 | 0.022 | 19 | 845 |
| nssv16194851 | 0.02 | 17 | 845 |