A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003974



Internal ID19093191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188467033..188963088hg38UCSC Ensembl
Innerchr2:189331760..189827814hg19UCSC Ensembl
Innerchr2:189040005..189536059hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38496056
hg19496055
hg18496055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583301
Samples
Known GenesDIRC1, GULP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003974
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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