A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560894



Internal ID333888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85322855..85322906hg38UCSC Ensembl
chr2:85549978..85550029hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917340
Samples
Known GenesTGOLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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