A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005209



Internal ID18747740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34614..62222hg38UCSC Ensembl
Innerchr4:34614..62114hg19UCSC Ensembl
Innerchr4:24614..52114hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3827609
hg1927501
hg1827501
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5066n100
Supporting Variantsnssv3615259, nssv3615258
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)nsv1005209
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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