A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223439



Internal ID22367207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144501412..144501639hg38UCSC Ensembl
chr7:144198505..144198732hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14337778, nssv14337777
SamplesNA19240, HG00514
Known GenesTPK1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223439
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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