A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374456



Internal ID22310854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7838425..7839628hg38UCSC Ensembl
chr17:7741743..7742946hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209739
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14374456
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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