A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042498



Internal ID18785029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69493835..69505349hg38UCSC Ensembl
Innerchr9:72108751..72120265hg19UCSC Ensembl
Innerchr9:71298571..71310085hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3811515
hg1911515
hg1811515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7675n100
Supporting Variantsnssv3696348, nssv3696347
Samples
Known GenesAPBA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042498
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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