A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598953



Internal ID16039676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94621232..94721120hg38UCSC Ensembl
Innerchr5:93956937..94056825hg19UCSC Ensembl
Innerchr5:93982693..94082581hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3899889
hg1999889
hg1899889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153051
SamplesNINDS_145
Known GenesANKRD32, MCTP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598953
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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