A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150245



Internal ID15507274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37462919..37487164hg38UCSC Ensembl
Innerchr18:35042882..35067127hg19UCSC Ensembl
Innerchr18:33296880..33321125hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3824246
hg1924246
hg1824246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576659
Supporting Variants
Samples1780854492_A
Known GenesCELF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150245
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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