A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715401



Internal ID139067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10999930..11007751hg38UCSC Ensembl
chr18:10999928..11007749hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387822
hg197822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529487
Supporting Variants
Samples
Known GenesPIEZO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715401
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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