A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516704



Internal ID293151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63637934..63644038hg38UCSC Ensembl
chr17:61715294..61721398hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg386105
hg196105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714010
Samples
Known GenesMAP3K3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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