A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522977



Internal ID299228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:45586290..45594675hg38UCSC Ensembl
chr15:45878488..45886873hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg388386
hg198386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701676
Samples
Known GenesBLOC1S6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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