A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436004



Internal ID214631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226568024..226568470hg38UCSC Ensembl
chr1:226755725..226756171hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896836
Samples
Known GenesC1orf95
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436004
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