A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377040



Internal ID22312376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110688677..110691833hg38UCSC Ensembl
chr9:113450957..113454113hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg383157
hg193157
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204301
Supporting Variants
SamplesNA19240
Known GenesMUSK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377040
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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