A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488304



Internal ID265621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43129858..43138015hg38UCSC Ensembl
chr10:43625306..43633463hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg388158
hg198158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032732
Samples
Known GenesRET
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488304
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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