A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004722



Internal ID18747253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68917..115411hg38UCSC Ensembl
Innerchr4:68809..115290hg19UCSC Ensembl
Innerchr4:58809..105290hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3846495
hg1946482
hg1846482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5069n100
Supporting Variantsnssv3616036, nssv3616037
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)nsv1004722
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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