A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13692433



Internal ID21214284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124840025..124840025hg38UCSC Ensembl
chr12:125324571..125324571hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791602
Supporting Variants
Samples
Known GenesSCARB1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13692433
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.590909


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