A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448149



Internal ID22243646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59436145..59436687hg38UCSC Ensembl
chr2:59663280..59663822hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177555
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448149
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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