A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576656



Internal ID16017379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37373082..37401653hg38UCSC Ensembl
Innerchr18:34953045..34981616hg19UCSC Ensembl
Innerchr18:33207043..33235614hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3828572
hg1928572
hg1828572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150244
SamplesNINDS_69
Known GenesCELF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576656
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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