A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593556



Internal ID16380965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7042720..7047115hg38UCSC Ensembl
Innerchr4:7044447..7048842hg19UCSC Ensembl
Innerchr4:7095348..7099743hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384396
hg194396
hg184396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv990869
Samples
Known GenesCCDC96, LOC100129931, TADA2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593556
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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