A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478617



Internal ID256169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73701358..73701421hg38UCSC Ensembl
chr10:75461116..75461179hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036980
Samples
Known GenesBMS1P4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478617
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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