A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556088



Internal ID329234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102086004..102086042hg38UCSC Ensembl
chr12:102479782..102479820hg19UCSC Ensembl
Cytoband12q23.2
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 Variantsnssv17690403
Samples
Known GenesNUP37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556088
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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