A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529759



Internal ID305767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2245676..2257331hg38UCSC Ensembl
chr17:2148970..2160625hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3811656
hg1911656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710904
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529759
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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