A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220606



Internal ID22365259
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338969
SamplesHG00512
Known GenesCHCHD3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220606
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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