A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388763



Internal ID22142908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63049404..63049505hg38UCSC Ensembl
chr17:61126765..61126866hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213890
Supporting Variants
SamplesHG00513
Known GenesMIR548W, TANC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388763
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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