A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18022871



Internal ID20589911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93078934..93087227hg38UCSC Ensembl
chr14:93545279..93553572hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg388294
hg198294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507058
Supporting Variants
Samples
Known GenesITPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18022871
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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