A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020015



Internal ID20587055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52785749..52788361hg38UCSC Ensembl
chr14:53252467..53255079hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382613
hg192613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489525
Supporting Variants
Samples
Known GenesGNPNAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020015
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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