A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18143415



Internal ID20710455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43229001..43229600hg38UCSC Ensembl
chr6:43196739..43197338hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414268
Supporting Variants
Samples
Known GenesDNPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18143415
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02933


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