A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503370



Internal ID280199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133366705..133366779hg38UCSC Ensembl
chr10:135180209..135180283hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043495
Samples
Known GenesECHS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503370
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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