A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394938



Internal ID22328557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178660165..178664418hg38UCSC Ensembl
chr2:179524892..179529145hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg384254
hg194254
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175210
Supporting Variants
SamplesNA19240
Known GenesMIR548N, TTN
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394938
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