A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948538



Internal ID15895808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45506637..45517044hg38UCSC Ensembl
Innerchr21:46926551..46936958hg19UCSC Ensembl
Innerchr21:45750979..45761386hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3810408
hg1910408
hg1810408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587855
Supporting Variants
Samples
Known GenesCOL18A1, SLC19A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948538
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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