A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433321



Internal ID212042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42856771..42859508hg38UCSC Ensembl
chr1:43322442..43325179hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382738
hg192738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901747
Samples
Known GenesLOC339539
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433321
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