A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891307



Internal ID168388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10002749..10003348hg38UCSC Ensembl
chr1:10062807..10063406hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429178
Supporting Variants
Samples
Known GenesRBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891307
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