A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434971



Internal ID22178009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241197238..241197553hg38UCSC Ensembl
chr1:241360538..241360853hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173379
Supporting Variants
SamplesHG00514
Known GenesRGS7
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)nssv14434971
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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