A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147079



Internal ID346272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:122538207..122547638hg38UCSC Ensembl
chr6:122859352..122868783hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg389432
hg199432
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969276
Samples
Known GenesPKIB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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