A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362909



Internal ID22254054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79249116..79257531hg38UCSC Ensembl
chr12:79642896..79651311hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388416
hg198416
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213603
Supporting Variants
SamplesNA19238
Known GenesSYT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362909
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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