A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv724894



Internal ID16018850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501757..154507842hg38UCSC Ensembl
Innerchr1:154474233..154480318hg19UCSC Ensembl
Innerchr1:152740857..152746942hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386086
hg196086
hg186086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547950
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)nssv724894
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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