A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553539



Internal ID326775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51157527..51157577hg38UCSC Ensembl
chr17:49234888..49234938hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713591
Samples
Known GenesNME1, NME1-NME2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553539
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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