A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125310



Internal ID20692350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137909757..137911916hg38UCSC Ensembl
chr5:137245446..137247605hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382160
hg192160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408812
Supporting Variants
Samples
Known GenesPKD2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125310
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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