A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18171518



Internal ID20738558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99972910..99974681hg38UCSC Ensembl
chr8:100985138..100986909hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381772
hg191772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423808
Supporting Variants
Samples
Known GenesRGS22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18171518
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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