A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362478



Internal ID22253684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31097161..31097222hg38UCSC Ensembl
chr12:31250095..31250156hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220001
Supporting Variants
SamplesNA19238
Known GenesDDX11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362478
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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