A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505330



Internal ID282109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51505043..51505103hg38UCSC Ensembl
chr12:51898827..51898887hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058595
Samples
Known GenesSLC4A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505330
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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