A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997899



Internal ID18810749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187491962..187667104hg38UCSC Ensembl
Innerchr2:188356689..188531831hg19UCSC Ensembl
Innerchr2:188064934..188240076hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38175143
hg19175143
hg18175143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4134n100
Supporting Variantsnssv3583295
Samples
Known GenesTFPI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997899
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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