A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440613



Internal ID22230808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86469239..86469383hg38UCSC Ensembl
chr1:86934922..86935066hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178516
Supporting Variants
SamplesHG00733
Known GenesCLCA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440613
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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