A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523559



Internal ID299786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36528628..36541746hg38UCSC Ensembl
chr17:34884459..34897595hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3813119
hg1913137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712863
Samples
Known GenesMYO19, PIGW
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523559
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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