A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005469



Internal ID18748000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131226955..131507516hg38UCSC Ensembl
Innerchr2:131984528..132265089hg19UCSC Ensembl
Innerchr2:131700998..131981559hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38280562
hg19280562
hg18280562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4079n100
Supporting Variantsnssv3580857
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)nsv1005469
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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