A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001488



Internal ID18744019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243227523..243419972hg38UCSC Ensembl
Innerchr1:243390825..243583274hg19UCSC Ensembl
Innerchr1:241457448..241649897hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38192450
hg19192450
hg18192450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500812
Samples
Known GenesCEP170, MIR4677, SDCCAG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001488
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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