A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531157



Internal ID307121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62015880..62016530hg38UCSC Ensembl
chr17:60093241..60093891hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724986
Samples
Known GenesMED13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531157
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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