A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012743



Internal ID19101960
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 StatusM
Merged Variants
Supporting Variantsnssv3585690
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)nsv1012743
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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