A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529448



Internal ID22398840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77598648..77598951hg38UCSC Ensembl
chr17:75594730..75595033hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282394, nssv14282398, nssv14282397, nssv14282393, nssv14282396, nssv14282399, nssv14282395
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529448
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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