A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012892



Internal ID18755424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1093083..1182842hg38UCSC Ensembl
Innerchr4:1086871..1176630hg19UCSC Ensembl
Innerchr4:1076871..1166630hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3889760
hg1989760
hg1889760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616104
Samples
Known GenesRNF212, SPON2, TMED11P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012892
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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