A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2797583



Internal ID21242921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39183338..39183338hg38UCSC Ensembl
chr17:37339591..37339591hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13690175
Samples
Known GenesCACNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2797583
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer