A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17594166



Internal ID21786209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51848311..51848311hg38UCSC Ensembl
chr8:52760871..52760871hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6069363
Supporting Variants
Samples
Known GenesPCMTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17594166
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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