A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378438



Internal ID22315990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30123052..30123123hg38UCSC Ensembl
chr17:28450070..28450141hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527733
Supporting Variants
SamplesNA19240
Known GenesNSRP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378438
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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