A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132439



Internal ID20699479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59621770..59622208hg38UCSC Ensembl
chr5:58917596..58918034hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408519
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132439
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00034


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