A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498730



Internal ID18739685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231576811..231670540hg38UCSC Ensembl
Innerchr1:231712557..231806286hg19UCSC Ensembl
Innerchr1:229779180..229872909hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3893730
hg1993730
hg1893730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998168
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)nssv3498730
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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