A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3492025



Internal ID19079666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232006198..232040560hg38UCSC Ensembl
Innerchr1:232141944..232176306hg19UCSC Ensembl
Innerchr1:230208567..230242929hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3834363
hg1934363
hg1834363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011509
Supporting Variants
Samples
Known GenesDISC1, 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)nssv3492025
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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