A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403862



Internal ID22300613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137785448..137785448hg38UCSC Ensembl
chr9:140679900..140679900hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553393
Supporting Variants
SamplesNA19240
Known GenesEHMT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403862
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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