A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14338969



Internal ID22124032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133043032..133043526hg38UCSC Ensembl
chr7:132727792..132728286hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220606
Supporting Variants
SamplesHG00512
Known GenesCHCHD3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14338969
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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