A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287553



Internal ID22293778
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216482
Supporting Variants
SamplesNA19240
Known GenesZNF227
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287553
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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