A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000141



Internal ID19089358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231576811..231672536hg38UCSC Ensembl
Innerchr1:231712557..231808282hg19UCSC Ensembl
Innerchr1:229779180..229874905hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3895726
hg1995726
hg1895726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv582n100
Supporting Variantsnssv3489009, nssv3494992, nssv3486759, nssv3488228, nssv3496743
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)nsv1000141
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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