A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362467



Internal ID22300416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30793801..30797250hg38UCSC Ensembl
chr12:30946735..30950184hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383450
hg193450
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224082
Supporting Variants
SamplesNA19240
Known GenesLINC00941
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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