A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942842



Internal ID22718286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53399596..53402486hg38UCSC Ensembl
chr12:53793380..53796270hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382891
hg192891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354066
Samples
Known GenesSP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942842
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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