A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532578



Internal ID308497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61373461..61374192hg38UCSC Ensembl
chr17:59450822..59451553hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724956
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532578
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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