A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014993



Internal ID18757528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:105874862..106059570hg38UCSC Ensembl
Innerchr4:106796019..106980727hg19UCSC Ensembl
Innerchr4:107015468..107200176hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38184709
hg19184709
hg18184709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3632411, nssv3632412
Samples
Known GenesNPNT, TBCK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014993
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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