A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580693



Internal ID18878974
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 StatusS
Merged Variantsnsv1013065
Supporting Variants
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)nssv3580693
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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