A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005070



Internal ID19094287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13060017..13121935hg38UCSC Ensembl
Innerchr2:13200142..13262060hg19UCSC Ensembl
Innerchr2:13117593..13179511hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3861919
hg1961919
hg1861919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3719n100
Supporting Variantsnssv3576976
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005070
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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