A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969114



Internal ID46734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128111577..128116453hg38UCSC Ensembl
chr6:128432722..128437598hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg384877
hg194877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469634
Supporting Variants
Samples
Known GenesPTPRK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969114
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002966


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