A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034604



Internal ID90781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47474000..47624265hg38UCSC Ensembl
chr10:48900273..49023239hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38150266
hg19122967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490696
Supporting Variants
Samples
Known GenesBMS1P1, BMS1P5, GLUD1P7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034604
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002808


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