A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703019



Internal ID126685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48926933..48927013hg38UCSC Ensembl
chr15:49219130..49219210hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144568
Supporting Variants
Samples
Known GenesSHC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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