A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372726



Internal ID22262559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10130168..10134153hg38UCSC Ensembl
chr17:10033485..10037470hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383986
hg193986
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226186
Supporting Variants
SamplesNA19238
Known GenesGAS7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372726
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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