A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461012



Internal ID22213580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55999994..56000284hg38UCSC Ensembl
chr8:56912553..56912843hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180851
Supporting Variants
SamplesHG00733
Known GenesLYN
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14461012
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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