A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576655



Internal ID16017378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37319383..37343823hg38UCSC Ensembl
Innerchr18:34899346..34923786hg19UCSC Ensembl
Innerchr18:33153344..33177784hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3824441
hg1924441
hg1824441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150243
SamplesHGDP01048
Known GenesCELF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576655
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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