A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390072



Internal ID22294821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152385314..152385645hg38UCSC Ensembl
chr7:152082399..152082730hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184621
Supporting Variants
SamplesNA19240
Known GenesKMT2C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390072
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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