A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526804



Internal ID22396187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368472..172368686hg38UCSC Ensembl
chr5:171795476..171795690hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7614n152
Supporting Variantsnssv14323873, nssv14323874, nssv14323875
SamplesHG00512, NA19239, HG00514
Known GenesSH3PXD2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526804
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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