A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362575



Internal ID22253774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5429301..5434250hg38UCSC Ensembl
chr12:5538467..5543416hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221982
Supporting Variants
SamplesNA19238
Known GenesNTF3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362575
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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