A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559276



Internal ID332314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56225973..56226024hg38UCSC Ensembl
chr12:56619757..56619808hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057625
Samples
Known GenesNABP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559276
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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