A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424381



Internal ID203374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54272932..54276483hg38UCSC Ensembl
chr1:54738605..54742156hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383552
hg193552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906000
Samples
Known GenesSSBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424381
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