A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593554



Internal ID16380963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7042720..7043930hg38UCSC Ensembl
Innerchr4:7044447..7045657hg19UCSC Ensembl
Innerchr4:7095348..7096558hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381211
hg191211
hg181211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8941n54
Supporting Variantsnssv990867, nssv990866
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)nsv593554
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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