A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001374



Internal ID19090591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:242056351..242147293hg38UCSC Ensembl
Innerchr2:242998502..243089444hg19UCSC Ensembl
Innerchr2:242647175..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3890943
hg1990943
hg1890943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4215n100
Supporting Variantsnssv3589907
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001374
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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