A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593436



Internal ID16034159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2792593..2845072hg38UCSC Ensembl
Innerchr4:2794320..2846799hg19UCSC Ensembl
Innerchr4:2764118..2816597hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3852480
hg1952480
hg1852480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152573
SamplesHGDP00607
Known GenesADD1, SH3BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593436
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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