A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412563



Internal ID22147768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137715108..137717533hg38UCSC Ensembl
chr9:140609560..140611985hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382426
hg192426
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192014
Supporting Variants
SamplesHG00514
Known GenesEHMT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14412563
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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