A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587957



Internal ID16028680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46169399..46170852hg38UCSC Ensembl
Innerchr21:47589313..47590766hg19UCSC Ensembl
Innerchr21:46413741..46415194hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381454
hg191454
hg181454
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949310, nssv949312, nssv949311, nssv949313
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587957
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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