A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013652



Internal ID18756184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131198973..131451608hg38UCSC Ensembl
Innerchr2:131956546..132209181hg19UCSC Ensembl
Innerchr2:131673016..131925651hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38252636
hg19252636
hg18252636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4078n100
Supporting Variantsnssv3580854
Samples
Known GenesLINC01120, LOC401010, LOC440910, POTEE, RNU6-81P, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013652
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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