A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201328



Internal ID22350656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62313850..62314402hg38UCSC Ensembl
chr5:61609677..61610229hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14322418
SamplesHG00733
Known GenesKIF2A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201328
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