A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14352951



Internal ID22280677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20148751..20153250hg38UCSC Ensembl
chr1:20475244..20479743hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196042
Supporting Variants
SamplesNA19239
Known GenesPLA2G2F
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14352951
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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