A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514743



Internal ID291236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76292320..76292863hg38UCSC Ensembl
chr17:74288401..74288944hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714709
Samples
Known GenesQRICH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514743
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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