A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495730



Internal ID272828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56100239..56101058hg38UCSC Ensembl
chr12:56494023..56494842hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057609
Samples
Known GenesERBB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495730
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer