A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519754



Internal ID15100361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:200558..203266hg38UCSC Ensembl
Innerchr3:242241..244949hg19UCSC Ensembl
Innerchr3:217241..219949hg18UCSC Ensembl
Innerchr3:217241..219949hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg382709
hg192709
hg182709
hg172709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv266n21
Supporting Variantsnssv678196, nssv658177, nssv679007, nssv681311
Samples
Known GenesCHL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519754
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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