A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588985



Internal ID16376394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37097635..37098127hg38UCSC Ensembl
Innerchr22:37493675..37494167hg19UCSC Ensembl
Innerchr22:35823621..35824113hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38493
hg19493
hg18493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv956659, nssv956658
Samples
Known GenesTMPRSS6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588985
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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