A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526999



Internal ID22396383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31849877..31849988hg38UCSC Ensembl
chr5:31849983..31850094hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7274n152
Supporting Variantsnssv14321239, nssv14321236, nssv14321235, nssv14321238, nssv14321237, nssv14321240, nssv14321234
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesPDZD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526999
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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