A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003284



Internal ID19092503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231699155..231751739hg38UCSC Ensembl
Innerchr1:231834901..231887485hg19UCSC Ensembl
Innerchr1:229901524..229954108hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3852585
hg1952585
hg1852585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705529
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)nsv1003284
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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