A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13685522



Internal ID21207380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47940861..47940861hg38UCSC Ensembl
chr12:48334644..48334644hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791285
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13685522
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.983871


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