A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472881



Internal ID250584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94986584..94989574hg38UCSC Ensembl
chr5:94322288..94325278hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382991
hg192991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972360
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472881
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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