A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395294



Internal ID22288648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979962..113980036hg38UCSC Ensembl
chr2:114737539..114737613hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185631
Supporting Variants
SamplesNA19240
Known GenesLOC100499194, LOC440900
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395294
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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