A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18127265



Internal ID20694305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135143153..135147149hg38UCSC Ensembl
chr5:134478843..134482839hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383997
hg193997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407440
Supporting Variants
Samples
Known GenesC5orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18127265
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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