A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377204



Internal ID22232851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88423671..88423830hg38UCSC Ensembl
chr14:88890015..88890174hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523818
Supporting Variants
SamplesHG00733
Known GenesSPATA7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYC mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377204
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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