A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011598



Internal ID18754132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:159175496..159224825hg38UCSC Ensembl
Innerchr2:160032007..160081336hg19UCSC Ensembl
Innerchr2:159740253..159789582hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3849330
hg1949330
hg1849330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582986
Samples
Known GenesMIR6888, TANC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011598
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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