A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471848



Internal ID249575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179189949..179190872hg38UCSC Ensembl
chr5:178616950..178617873hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976897
Samples
Known GenesADAMTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471848
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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