A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520434



Internal ID296763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2238874..2238950hg38UCSC Ensembl
chr17:2142168..2142244hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710901
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520434
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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