A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461978



Internal ID22212559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202203766..202206416hg38UCSC Ensembl
chr1:202172894..202175544hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382651
hg192651
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183128
Supporting Variants
SamplesHG00733
Known GenesLGR6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461978
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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