A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593439



Internal ID16380848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3147289..3214108hg38UCSC Ensembl
Innerchr4:3149016..3215835hg19UCSC Ensembl
Innerchr4:3118814..3185633hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3866820
hg1966820
hg1866820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152575
Samples1780854205_A
Known GenesHTT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593439
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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