A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173103



Internal ID15853436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108829252hg38UCSC Ensembl
Innerchr1:109367944..109371874hg19UCSC Ensembl
Innerchr1:109169467..109173397hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383931
hg193931
hg183931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547421
Supporting Variants
Samples1780854202_A
Known GenesAKNAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173103
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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