A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466131



Internal ID22218404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152385317..152385648hg38UCSC Ensembl
chr7:152082402..152082733hg19UCSC 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 Variantsnsv3171902
Supporting Variants
SamplesHG00733
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)nssv14466131
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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