A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060656



Internal ID19149875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52498046..52538742hg38UCSC Ensembl
Innerchr19:53001299..53041995hg19UCSC Ensembl
Innerchr19:57693111..57733807hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3840697
hg1940697
hg1840697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3627n100
Supporting Variantsnssv3575041, nssv3575042
Samples
Known GenesZNF578, ZNF808
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060656
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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