A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540230



Internal ID315027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10762880..10762884hg38UCSC Ensembl
chr16:10856737..10856741hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704528
Samples
Known GenesNUBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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