A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390130



Internal ID22270883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37380859..37381884hg38UCSC Ensembl
chr17:35737797..35738822hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218136
Supporting Variants
SamplesNA19239
Known GenesACACA, C17orf78
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390130
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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