A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043144



Internal ID96469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3746261..3746873hg38UCSC Ensembl
chr11:3767491..3768103hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502194
Supporting Variants
Samples
Known GenesNUP98
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043144
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007651


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