A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998281



Internal ID19157818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68560718..68618379hg38UCSC Ensembl
Innerchr4:69426436..69484097hg19UCSC Ensembl
Innerchr4:69109031..69166692hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3857662
hg1957662
hg1857662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5283n100
Supporting Variantsnssv3628766, nssv3628765, nssv3628763, nssv3628767, nssv3628764
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998281
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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