A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv987456



Internal ID15934726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1084808..1093477hg38UCSC Ensembl
Innerchr4:1078596..1087265hg19UCSC Ensembl
Innerchr4:1068596..1077265hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg388670
hg198670
hg188670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593239
Supporting Variants
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv987456
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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