A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048379



Internal ID100123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74195696..74201000hg38UCSC Ensembl
chr11:73906741..73912045hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg385305
hg195305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498419
Supporting Variants
Samples
Known GenesPPME1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048379
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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