A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009119



Internal ID18751650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231571141..231677560hg38UCSC Ensembl
Innerchr1:231706887..231813306hg19UCSC Ensembl
Innerchr1:229773510..229879929hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38106420
hg19106420
hg18106420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv582n100
Supporting Variantsnssv3485731, nssv3499003
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)nsv1009119
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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