A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000146



Internal ID18742677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131314898..131543555hg38UCSC Ensembl
Innerchr2:132072471..132301128hg19UCSC Ensembl
Innerchr2:131788941..132017598hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38228658
hg19228658
hg18228658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4080n100
Supporting Variantsnssv3729236
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, 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)nsv1000146
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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