A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694540



Internal ID15431192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89667023..89677669hg38UCSC Ensembl
Innerchr1:90132582..90143228hg19UCSC Ensembl
Innerchr1:89905170..89915816hg18UCSC Ensembl
Innerchr1:89844603..89855249hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3810647
hg1910647
hg1810647
hg1710647
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521773
Supporting Variants
Samples
Known GenesLRRC8C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694540
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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