A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594944



Internal ID16382353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99949742..99950774hg38UCSC Ensembl
Innerchr4:100870899..100871931hg19UCSC Ensembl
Innerchr4:101089922..101090954hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381033
hg191033
hg181033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003439
Samples
Known GenesH2AFZ, LOC256880
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594944
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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