A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525567



Internal ID301723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4540102..4540168hg38UCSC Ensembl
chr17:4443397..4443463hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710980
Samples
Known GenesMYBBP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525567
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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