A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736959



Internal ID15684229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216024673..216042176hg38UCSC Ensembl
Innerchr1:216198015..216215518hg19UCSC Ensembl
Innerchr1:214264638..214282141hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3817504
hg1917504
hg1817504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549195
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)nssv736959
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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