A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901770



Internal ID1973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43175835..43185835hg38UCSC Ensembl
chr1:43641506..43651506hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431340
Supporting Variants
Samples
Known GenesWDR65
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901770
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer