A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997248



Internal ID18810098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131390238..131985656hg38UCSC Ensembl
Innerchr2:132147811..132743229hg19UCSC Ensembl
Innerchr2:131864281..132459699hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38595419
hg19595419
hg18595419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580870
Samples
Known GenesC2orf27A, C2orf27B, CCDC74A, LINC01087, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, POTEKP, RNU6-81P, TUBA3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997248
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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