A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002516



Internal ID18745048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34614..66815hg38UCSC Ensembl
Innerchr4:34614..66707hg19UCSC Ensembl
Innerchr4:24614..56707hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3832202
hg1932094
hg1832094
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5066n100
Supporting Variantsnssv3615262, nssv3738062, nssv3738063, nssv3615263
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002516
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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