A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791687



Internal ID21237025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6362936..6362936hg38UCSC Ensembl
chr12:6472102..6472102hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13697828
Samples
Known GenesSCNN1A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791687
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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