A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220764



Internal ID22365370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78351025..78351257hg38UCSC Ensembl
chr17:76347106..76347338hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282449, nssv14282445, nssv14282448, nssv14282451, nssv14282447, nssv14282450, nssv14282444, nssv14282446, nssv14282443
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220764
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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