A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432844



Internal ID211577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76918983..76977225hg38UCSC Ensembl
chr1:77384668..77442910hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858243
hg1958243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904709
Samples
Known GenesST6GALNAC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432844
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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