A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436165



Internal ID214787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154193937..154197212hg38UCSC Ensembl
chr2:155050450..155053725hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383276
hg193276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925538
Samples
Known GenesGALNT13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436165
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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