A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549338



Internal ID16336747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231949739..232067274hg38UCSC Ensembl
Innerchr1:232085485..232203020hg19UCSC Ensembl
Innerchr1:230152108..230269643hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38117536
hg19117536
hg18117536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174056
Samples1780862530_A
Known GenesDISC1, TSNAX-DISC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549338
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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