A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145324



Internal ID344529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10910500..10918000hg38UCSC Ensembl
chr18:10910498..10917998hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715394
Samples
Known GenesPIEZO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145324
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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