A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969237



Internal ID46814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136991168..136991250hg38UCSC Ensembl
chr6:137312305..137312387hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471074
Supporting Variants
Samples
Known GenesNHEG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969237
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.769078


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