A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14334614



Internal ID22281268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51203212..51203472hg38UCSC Ensembl
chr7:51270909..51271169hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524171
Supporting Variants
SamplesNA19239
Known GenesCOBL
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)nssv14334614
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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