A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011421



Internal ID18753955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132137668..132924612hg38UCSC Ensembl
Innerchr2:132895241..133682185hg19UCSC Ensembl
Innerchr2:132611711..133398655hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38786945
hg19786945
hg18786945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580878
Samples
Known GenesANKRD30BL, GPR39, LYPD1, MIR663B, MIR7853, NCKAP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011421
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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