A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv710923



Internal ID15658193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17040376..17159158hg38UCSC Ensembl
Innerchr1:17366871..17485653hg19UCSC Ensembl
Innerchr1:17239458..17358240hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38118783
hg19118783
hg18118783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545690
Supporting Variants
Samples
Known GenesPADI2, SDHB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv710923
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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