A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475229



Internal ID252873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12152358..12153844hg38UCSC Ensembl
chr10:12194357..12195843hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381487
hg191487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029228
Samples
Known GenesSEC61A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475229
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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