A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457922



Internal ID22251883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68112558..68112651hg38UCSC Ensembl
chr1:68578241..68578334hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3182536
Supporting Variants
SamplesHG00733
Known GenesGNG12-AS1, WLS
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457922
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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