A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007320



Internal ID18749851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..163549hg38UCSC Ensembl
Innerchr4:12269..157339hg19UCSC Ensembl
Innerchr4:2269..147339hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38151281
hg19145071
hg18145071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5060n100
Supporting Variantsnssv3615218, nssv3615217
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)nsv1007320
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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