A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361860



Internal ID22277337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3127036..3127608hg38UCSC Ensembl
chr12:3236202..3236774hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224630
Supporting Variants
SamplesNA19239
Known GenesTSPAN9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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