A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18131470



Internal ID20698510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40093015..40094063hg38UCSC Ensembl
chr5:40093117..40094165hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6376681
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18131470
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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