A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718731



Internal ID15666001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86542848..86568551hg38UCSC Ensembl
Innerchr1:87008531..87034234hg19UCSC Ensembl
Innerchr1:86781119..86806822hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3825704
hg1925704
hg1825704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546759
Supporting Variants
Samples
Known GenesCLCA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv718731
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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