A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473242



Internal ID250929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49698520..49698582hg38UCSC Ensembl
chr6:49666233..49666295hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983262
Samples
Known GenesCRISP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473242
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