A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004482



Internal ID19093700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95743239..95930969hg38UCSC Ensembl
Innerchr2:96408987..96596717hg19UCSC Ensembl
Innerchr2:95772714..95960444hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38187731
hg19187731
hg18187731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729132
Samples
Known GenesLINC00342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004482
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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