A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453707



Internal ID22248413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37437675..37438002hg38UCSC Ensembl
chr7:37477278..37477605hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189807
Supporting Variants
SamplesHG00733
Known GenesELMO1
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)nssv14453707
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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