A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049763



Internal ID18792294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69414672..69434676hg38UCSC Ensembl
Innerchr9:72029588..72049592hg19UCSC Ensembl
Innerchr9:71219408..71239412hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3820005
hg1920005
hg1820005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7669n100
Supporting Variantsnssv3696232, nssv3696230, nssv3696231
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)nsv1049763
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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