A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525513



Internal ID301670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78044189..78046440hg38UCSC Ensembl
chr17:76040270..76042521hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382252
hg192252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714822
Samples
Known GenesTNRC6C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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