A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362036



Internal ID22298348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71962864..71964345hg38UCSC Ensembl
chr12:72356644..72358125hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527810
Supporting Variants
SamplesNA19240
Known GenesTPH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362036
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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