A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196042



Internal ID22346126
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14352950, nssv14352952, nssv14352948, nssv14352945, nssv14352946, nssv14352947, nssv14352951, nssv14352949, nssv14352944
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPLA2G2F
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196042
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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