A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563671



Internal ID336601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97049515..97058507hg38UCSC Ensembl
chr6:97497391..97506383hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg388993
hg198993
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988532
Samples
Known GenesKLHL32
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563671
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer