A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573675



Internal ID16014398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88740797..88743485hg38UCSC Ensembl
Innerchr16:88807205..88809893hg19UCSC Ensembl
Innerchr16:87334706..87337394hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382689
hg192689
hg182689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv863082
Samples
Known GenesLOC100289580, PIEZO1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573675
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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