A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216482



Internal ID22362463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44220975..44221209hg38UCSC Ensembl
chr19:44725128..44725362hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4283n152
Supporting Variantsnssv14287551, nssv14287553, nssv14287550, nssv14287552
SamplesNA19239, NA19240, HG00513, HG00514
Known GenesZNF227
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216482
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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