A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408761



Internal ID22318109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238869113..238872409hg38UCSC Ensembl
chr2:239777754..239781050hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383297
hg193297
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3182604
Supporting Variants
SamplesNA19240
Known GenesTWIST2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408761
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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