A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014942



Internal ID19104159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187495389..187616011hg38UCSC Ensembl
Innerchr2:188360116..188480738hg19UCSC Ensembl
Innerchr2:188068361..188188983hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38120623
hg19120623
hg18120623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729305
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)nsv1014942
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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