A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524997



Internal ID301177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9547003..9547379hg38UCSC Ensembl
chr17:9450320..9450696hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711348
Samples
Known GenesSTX8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524997
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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