A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741002



Internal ID164668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80712106..80713781hg38UCSC Ensembl
chrX:79967605..79969280hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381676
hg191676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138386
Supporting Variants
Samples
Known GenesBRWD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741002
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002971


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