A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400977



Internal ID22321062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107730128..107730128hg38UCSC Ensembl
chr7:107370573..107370573hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg381607
hg191607
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520855
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400977
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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