A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487444



Internal ID264782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72075224..72085217hg38UCSC Ensembl
chr10:73834982..73844975hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg389994
hg199994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035299
Samples
Known GenesSPOCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487444
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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