A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580015



Internal ID18531610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97220585..97648216hg38UCSC Ensembl
Innerchr2:97886322..98264679hg19UCSC Ensembl
Innerchr2:97250040..97631111hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38427632
hg19378358
hg18381072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999118
Supporting Variants
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)nssv3580015
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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