A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531056



Internal ID307019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3601052..3658170hg38UCSC Ensembl
chr17:3504346..3561464hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3857119
hg1957119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710423
Samples
Known GenesCTNS, SHPK, TRPV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531056
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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