A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196537



Internal ID22346528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68325478..68325590hg38UCSC Ensembl
chr7:67790465..67790577hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8571n152
Supporting Variantsnssv14335843, nssv14335842, nssv14335840, nssv14335841
SamplesHG00512, NA19238, NA19240, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196537
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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