A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002019



Internal ID19091236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..85265hg38UCSC Ensembl
Innerchr4:12269..85156hg19UCSC Ensembl
Innerchr4:2269..75156hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3872997
hg1972888
hg1872888
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5058n100
Supporting Variantsnssv3615182, nssv3615186, nssv3615187, nssv3615183, nssv3615188, nssv3615184, nssv3615185
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)nsv1002019
Frequency
Sample Size11257
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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