A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576570



Internal ID16363979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23220751..23290196hg38UCSC Ensembl
Innerchr18:20800715..20870160hg19UCSC Ensembl
Innerchr18:19054713..19124158hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3869446
hg1969446
hg1869446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5873n54
Supporting Variantsnssv1149705
Samples1780854288_A
Known GenesCABLES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576570
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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