A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501885



Internal ID278772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49832920..49832974hg38UCSC Ensembl
chr12:50226703..50226757hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056917
Samples
Known GenesBCDIN3D-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501885
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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