A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998871



Internal ID18811721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44730915..44785507hg38UCSC Ensembl
Innerchr1:45196587..45251179hg19UCSC Ensembl
Innerchr1:44969174..45023766hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3854593
hg1954593
hg1854593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3479514
Samples
Known GenesBEST4, KIF2C, RPS8, SNORD38A, SNORD38B, SNORD46, SNORD55
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998871
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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