A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718344



Internal ID16012300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80190429..80691164hg38UCSC Ensembl
Innerchr1:80656114..81156849hg19UCSC Ensembl
Innerchr1:80428702..80929437hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38500736
hg19500736
hg18500736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546661
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv718344
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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