A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406606



Internal ID22313421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236214058..236214151hg38UCSC Ensembl
chr2:237122701..237122794hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183195
Supporting Variants
SamplesNA19240
Known GenesASB18
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406606
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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