A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408426



Internal ID22313074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241766940..241766999hg38UCSC Ensembl
chr2:242706355..242706414hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176703
Supporting Variants
SamplesNA19240
Known GenesD2HGDH
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408426
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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