A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443184



Internal ID221587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241673313..241701162hg38UCSC Ensembl
chr1:241836615..241864464hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3827850
hg1927850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898131
Samples
Known GenesWDR64
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443184
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