A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495051



Internal ID272175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33558662..33564775hg38UCSC Ensembl
chr13:34132799..34138912hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg386114
hg196114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686768
Samples
Known GenesSTARD13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495051
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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