A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18075326



Internal ID20642367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108894638..108895021hg38UCSC Ensembl
chr2:109511094..109511477hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352940
Supporting Variants
Samples
Known GenesEDAR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18075326
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00014


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