A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949308



Internal ID15896578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46169399..46170525hg38UCSC Ensembl
Innerchr21:47589313..47590439hg19UCSC Ensembl
Innerchr21:46413741..46414867hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381127
hg191127
hg181127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587956
Supporting Variants
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949308
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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