A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336808



Internal ID22116416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104974758..104975087hg38UCSC Ensembl
chr7:104615205..104615534hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523528
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14336808
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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