A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454956



Internal ID233048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137076202..137106708hg38UCSC Ensembl
chr5:136411891..136442397hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3830507
hg1930507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974506
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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