A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577157



Internal ID16017880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:65715200..68002467hg38UCSC Ensembl
Innerchr18:63382436..65669704hg19UCSC Ensembl
Innerchr18:61533416..63820684hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg382287268
hg192287269
hg182287269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150020
Samples1780862576_A
Known GenesCDH19, CDH7, DSEL, LOC643542, MIR5011
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577157
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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