A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723015



Internal ID15670285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119880082..119923485hg38UCSC Ensembl
Innerchr1:120422705..120466108hg19UCSC Ensembl
Innerchr1:120224228..120267631hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3843404
hg1943404
hg1843404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547625
Supporting Variants
Samples
Known GenesADAM30, NOTCH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723015
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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