A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736941



Internal ID15684211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215687122..215689557hg38UCSC Ensembl
Innerchr1:215860464..215862899hg19UCSC Ensembl
Innerchr1:213927087..213929522hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382436
hg192436
hg182436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549184
Supporting Variants
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv736941
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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