A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3499975



Internal ID18740930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216095454..216155994hg38UCSC Ensembl
Innerchr1:216268796..216329336hg19UCSC Ensembl
Innerchr1:214335419..214395959hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3860541
hg1960541
hg1860541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999211
Supporting Variants
Samples
Known GenesUSH2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3499975
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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