A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694192



Internal ID15430844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106965845..106973586hg38UCSC Ensembl
Innerchr1:107508467..107516208hg19UCSC Ensembl
Innerchr1:107309990..107317731hg18UCSC Ensembl
Innerchr1:107220509..107228250hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg387742
hg197742
hg187742
hg177742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518031
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694192
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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