A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383613



Internal ID22268138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30456257..30456847hg38UCSC Ensembl
chr17:28783275..28783865hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222081
Supporting Variants
SamplesNA19238
Known GenesCPD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14383613
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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