A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448879



Internal ID22244266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8610693..8611104hg38UCSC Ensembl
chr2:8750823..8751234hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171021
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)nssv14448879
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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