A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577547



Internal ID16364956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:70280875..70287994hg38UCSC Ensembl
Innerchr18:67948111..67955230hg19UCSC Ensembl
Innerchr18:66099091..66106210hg18UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg387120
hg197120
hg187120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv887089, nssv887090
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577547
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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