A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454164



Internal ID22248794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71852956..71853043hg38UCSC Ensembl
chr8:72765191..72765278hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175013
Supporting Variants
SamplesHG00733
Known GenesLOC100132891
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14454164
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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