A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012461



Internal ID18754994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:71528..121670hg38UCSC Ensembl
Innerchr4:71420..121550hg19UCSC Ensembl
Innerchr4:61420..111550hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3850143
hg1950131
hg1850131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5069n100
Supporting Variantsnssv3616068, nssv3738093
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)nsv1012461
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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