A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972229



Internal ID22747164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24365677..24365677hg38UCSC Ensembl
chr12:24518611..24518611hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361256
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972229
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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