A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222081



Internal ID22366272
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384713, nssv14383613, nssv14376214
SamplesHG00512, NA19238, NA19239
Known GenesCPD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222081
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer