A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448462



Internal ID22243916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170950159..170950402hg38UCSC Ensembl
chr2:171806669..171806912hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183194
Supporting Variants
SamplesHG00733
Known GenesGORASP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448462
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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