A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18085760



Internal ID20652800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216218605..216219170hg38UCSC Ensembl
chr2:217083328..217083893hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336455
Supporting Variants
Samples
Known GenesPKI55
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18085760
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0006


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