A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3499813



Internal ID19087454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231604951..231813586hg38UCSC Ensembl
Innerchr1:231740697..231949332hg19UCSC Ensembl
Innerchr1:229807320..230015955hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38208636
hg19208636
hg18208636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999063
Supporting Variants
Samples
Known GenesDISC1, LINC00582, TSNAX-DISC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3499813
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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