A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17545262



Internal ID21869617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50674921..50674921hg38UCSC Ensembl
chr5:49970755..49970755hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6066748
Supporting Variants
Samples
Known GenesPARP8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17545262
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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