A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040623



Internal ID94789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1983000..2041000hg38UCSC Ensembl
chr11:2004230..2062230hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3858001
hg1958001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144247
Supporting Variants
Samples
Known GenesH19, MIR675, MRPL23-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040623
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.27261


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