A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470088



Internal ID247859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:98891237..98891412hg38UCSC Ensembl
chr5:98226941..98227116hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972464
Samples
Known GenesCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470088
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