A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526971



Internal ID22396355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41411872..41411956hg38UCSC Ensembl
chr5:41411974..41412058hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14320023, nssv14320019, nssv14320024, nssv14320016, nssv14320020, nssv14320018, nssv14320017, nssv14320021, nssv14320022
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPLCXD3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526971
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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