A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226044



Internal ID22368987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51817583..51818927hg38UCSC Ensembl
chr8:52730143..52731487hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342497, nssv14342496
SamplesHG00731, HG00733
Known GenesPCMTD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226044
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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