A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18172057



Internal ID20739097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85470501..85472000hg38UCSC Ensembl
chr8:86382730..86384229hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6417385
Supporting Variants
Samples
Known GenesCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18172057
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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