A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv724893



Internal ID16018849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501757..154502561hg38UCSC Ensembl
Innerchr1:154474233..154475037hg19UCSC Ensembl
Innerchr1:152740857..152741661hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38805
hg19805
hg18805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547949
Supporting Variants
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv724893
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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