A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000842



Internal ID18743373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131213210..131543555hg38UCSC Ensembl
Innerchr2:131970783..132301128hg19UCSC Ensembl
Innerchr2:131687253..132017598hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38330346
hg19330346
hg18330346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4079n100
Supporting Variantsnssv3580855
Samples
Known GenesCCDC74A, LINC01120, 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)nsv1000842
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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