A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14332641



Internal ID22199058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37437674..37438001hg38UCSC Ensembl
chr7:37477277..37477604hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187273
Supporting Variants
SamplesHG00732
Known GenesELMO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14332641
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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