A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv727674



Internal ID15674944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160363952..160422364hg38UCSC Ensembl
Innerchr1:160333742..160392154hg19UCSC Ensembl
Innerchr1:158600366..158658778hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3858413
hg1958413
hg1858413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548056
Supporting Variants
Samples
Known GenesNHLH1, VANGL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv727674
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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