A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6092253



Internal ID22001486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8370870..8370870hg38UCSC Ensembl
chr17:8274188..8274188hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383213
hg193213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17623225
Samples
Known GenesKRBA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6092253
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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