A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413596



Internal ID22148913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41847993..41848199hg38UCSC Ensembl
chr1:42313664..42313870hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3172686
Supporting Variants
SamplesHG00514
Known GenesHIVEP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413596
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