A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18131478



Internal ID20698518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40228450..40229597hg38UCSC Ensembl
chr5:40228552..40229699hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387466
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18131478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00106


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