A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998291



Internal ID18811141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230180672..230271563hg38UCSC Ensembl
Innerchr2:231045388..231136278hg19UCSC Ensembl
Innerchr2:230753632..230844522hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3890892
hg1990891
hg1890891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586862
Samples
Known GenesSP110, SP140
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998291
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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