A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398618



Internal ID22305152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17172042..17173728hg38UCSC Ensembl
chr5:17172151..17173837hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381687
hg191687
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178493
Supporting Variants
SamplesNA19240
Known GenesLOC285696
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14398618
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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