A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489525



Internal ID21147078
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 StatusM
Merged Variants
Supporting Variantsnssv18020015
Samples
Known GenesGNPNAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489525
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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