A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000303



Internal ID18742834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131182622..131508964hg38UCSC Ensembl
Innerchr2:131940195..132266537hg19UCSC Ensembl
Innerchr2:131656665..131983007hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38326343
hg19326343
hg18326343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4077n100
Supporting Variantsnssv3580852
Samples
Known GenesLINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, POTEE, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000303
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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