A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505577



Internal ID282346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51350948..51354820hg38UCSC Ensembl
chr12:51744732..51748604hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383873
hg193873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058585
Samples
Known GenesGALNT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505577
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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