A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013065



Internal ID19102283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117986917..118022937hg38UCSC Ensembl
Innerchr2:118744493..118780513hg19UCSC Ensembl
Innerchr2:118460963..118496983hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3836021
hg1936021
hg1836021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580693
Samples
Known GenesCCDC93
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013065
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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