A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967924



Internal ID22742859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8134979..8134979hg38UCSC Ensembl
chr12:8287575..8287575hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353007
Samples
Known GenesCLEC4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967924
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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