A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6081203



Internal ID21990436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68431746..68431746hg38UCSC Ensembl
chr17:66427887..66427887hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17623521
Samples
Known GenesPRKAR1A, WIPI1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6081203
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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