A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14333879



Internal ID22194017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28810109..28814767hg38UCSC Ensembl
chr7:28849726..28854384hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg384659
hg194659
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203353
Supporting Variants
SamplesHG00731
Known GenesCREB5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14333879
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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