A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558362



Internal ID331427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8370886..8370937hg38UCSC Ensembl
chr17:8274204..8274255hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711272
Samples
Known GenesKRBA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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