A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997679



Internal ID19157216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238911116..238948201hg38UCSC Ensembl
Innerchr2:239832812..239869897hg19UCSC Ensembl
Innerchr2:239497749..239534834hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3837086
hg1937086
hg1837086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4194n100
Supporting Variantsnssv3586965
Samples
Known GenesFLJ43879
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997679
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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