A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002719



Internal ID18745251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131306163..131523332hg38UCSC Ensembl
Innerchr2:132063736..132280905hg19UCSC Ensembl
Innerchr2:131780206..131997375hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38217170
hg19217170
hg18217170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4080n100
Supporting Variantsnssv3580865
Samples
Known GenesLINC01120, 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)nsv1002719
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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