A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928271



Internal ID22703508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123400068..123400280hg38UCSC Ensembl
chr12:123884615..123884827hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368747
Samples
Known GenesSETD8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928271
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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