A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011958



Internal ID18754494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97220585..97652647hg38UCSC Ensembl
Innerchr2:97886322..98269110hg19UCSC Ensembl
Innerchr2:97250040..97635542hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38432063
hg19382789
hg18385503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4025n100
Supporting Variantsnssv3580016
Samples
Known GenesANKRD36, ANKRD36B, COX5B, LOC100506076, LOC100506123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011958
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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