A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593236



Internal ID16033959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1084399..1087192hg38UCSC Ensembl
Innerchr4:1078187..1080980hg19UCSC Ensembl
Innerchr4:1068187..1070980hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382794
hg192794
hg182794
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987448, nssv987449
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593236
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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