A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036643



Internal ID20603683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5366601..5367500hg38UCSC Ensembl
chr17:5269896..5270795hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511752
Supporting Variants
Samples
Known GenesRABEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036643
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00033


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