A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428996



Internal ID22170504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137715650..137715650hg38UCSC Ensembl
chr9:140610102..140610102hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg386484
hg196484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544581
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)nssv14428996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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