A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399195



Internal ID22306642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368513..172368513hg38UCSC Ensembl
chr5:171795517..171795517hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542180
Supporting Variants
SamplesNA19240
Known GenesSH3PXD2B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399195
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