A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443213



Internal ID221614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220780545..220780990hg38UCSC Ensembl
chr1:220953887..220954332hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897266
Samples
Known GenesMARC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443213
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