A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585690



Internal ID18883971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215093014..215147055hg38UCSC Ensembl
Innerchr2:215957737..216011778hg19UCSC Ensembl
Innerchr2:215665982..215720023hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3854042
hg1954042
hg1854042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012743
Supporting Variants
Samples
Known GenesABCA12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3585690
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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