A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534371



Internal ID310180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56551293..56551319hg38UCSC Ensembl
chr1:57016966..57016992hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903030
Samples
Known GenesPPAP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534371
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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