A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133127



Internal ID20700167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60376367..60377651hg38UCSC Ensembl
chr5:59672194..59673478hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398261
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133127
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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