A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560797



Internal ID22429594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50588357..50588357hg38UCSC Ensembl
chr17:48665718..48665718hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377901, nssv14382810, nssv14378694, nssv14380093, nssv14380827, nssv14387230, nssv14375944, nssv14373542, nssv14392379
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCACNA1G
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560797
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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