A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518055



Internal ID294451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62002724..62009487hg38UCSC Ensembl
chr17:60080085..60086848hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg386764
hg196764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724982
Samples
Known GenesMED13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518055
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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