A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296092



Internal ID22132049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177044717..177046030hg38UCSC Ensembl
chr1:177013853..177015166hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194561
Supporting Variants
SamplesHG00513
Known GenesASTN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296092
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