A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490696



Internal ID267947
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 StatusM
Merged Variants
Supporting Variantsnssv17034604
Samples
Known GenesBMS1P1, BMS1P5, GLUD1P7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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