A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559203



Internal ID332244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101778255..101778306hg38UCSC Ensembl
chr12:102172033..102172084hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690382
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559203
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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