A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006251



Internal ID18748782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..84076hg38UCSC Ensembl
Innerchr4:12269..83967hg19UCSC Ensembl
Innerchr4:2269..73967hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3871808
hg1971699
hg1871699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5057n100
Supporting Variantsnssv3615181, nssv3615177, nssv3615176, nssv3615175, nssv3615179, nssv3615173, nssv3615178, nssv3615174, nssv3615180
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)nsv1006251
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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