A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595616



Internal ID16036339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144023955..144135334hg38UCSC Ensembl
Innerchr4:144945108..145056487hg19UCSC Ensembl
Innerchr4:145164558..145275937hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38111380
hg19111380
hg18111380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152838
SamplesHGDP00711
Known GenesGYPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595616
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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