A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377561



Internal ID22194809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28571590..28576302hg38UCSC Ensembl
chr17:26898608..26903320hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384713
hg194713
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228995
Supporting Variants
SamplesHG00731
Known GenesALDOC, PIGS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377561
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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