A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012204



Internal ID18754740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214910881..214988971hg38UCSC Ensembl
Innerchr2:215775605..215853695hg19UCSC Ensembl
Innerchr2:215483850..215561940hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3878091
hg1978091
hg1878091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585689
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)nsv1012204
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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