A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019723



Internal ID20586763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50109307..50110544hg38UCSC Ensembl
chr14:50576025..50577262hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381238
hg191238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485176
Supporting Variants
Samples
Known GenesVCPKMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019723
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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