A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369714



Internal ID22267507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99319165..99320423hg38UCSC Ensembl
chr13:99971419..99972677hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216658
Supporting Variants
SamplesNA19238
Known GenesMIR548AN, UBAC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369714
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