A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559061



Internal ID332107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96927504..96927516hg38UCSC Ensembl
chr6:97375380..97375392hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988520
Samples
Known GenesKLHL32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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