A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001165



Internal ID18743696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1057724..1136187hg38UCSC Ensembl
Innerchr4:1051512..1129975hg19UCSC Ensembl
Innerchr4:1041512..1119975hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3878464
hg1978464
hg1878464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5080n100
Supporting Variantsnssv3616103
Samples
Known GenesRNF212, TMED11P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001165
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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