A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177702



Internal ID20744742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73877333..73881852hg38UCSC Ensembl
chr14:74344036..74348555hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384520
hg194520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494893
Supporting Variants
Samples
Known GenesPTGR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177702
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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