A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197611



Internal ID22347468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69311667..69311861hg38UCSC Ensembl
chr5:68607494..68607688hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323217
SamplesHG00512
Known GenesCCDC125
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197611
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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