A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404977



Internal ID22310351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50766745..50767116hg38UCSC Ensembl
chr17:48844106..48844477hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207563
Supporting Variants
SamplesNA19240
Known GenesLINC00483
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404977
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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