A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531255



Internal ID307217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76062556..76062614hg38UCSC Ensembl
chr17:74058637..74058695hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714684
Samples
Known GenesSRP68
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531255
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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