A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523192



Internal ID299436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77380807..77386405hg38UCSC Ensembl
chr17:75376889..75382487hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385599
hg195599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714771
Samples
Known GenesSEPT9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523192
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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