A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377475



Internal ID22194793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32916271..32922766hg38UCSC Ensembl
chr17:31243289..31249784hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386496
hg196496
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216709
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377475
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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