A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494230



Internal ID271382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1957984..1958485hg38UCSC Ensembl
chr12:2067150..2067651hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054836
Samples
Known GenesDCP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494230
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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