A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516543



Internal ID292997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10711037..10713200hg38UCSC Ensembl
chr17:10614354..10616517hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382164
hg192164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711402
Samples
Known GenesADPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516543
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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