A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395031



Internal ID22311437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241036046..241036096hg38UCSC Ensembl
chr2:241975463..241975513hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175857
Supporting Variants
SamplesNA19240
Known GenesSNED1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395031
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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