A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448992



Internal ID22222326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41329374..41329439hg38UCSC Ensembl
chr1:41795046..41795111hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186862
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)nssv14448992
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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