A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429862



Internal ID22171753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70532683..70532754hg38UCSC Ensembl
chr1:70998366..70998437hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174464
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14429862
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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