A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206830



Internal ID22355317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99190284..99190717hg38UCSC Ensembl
chr7:98787907..98788340hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8665n152
Supporting Variantsnssv14335626, nssv14335622, nssv14335624, nssv14335623, nssv14335625
SamplesNA19238, NA19239, HG00732, HG00733, HG00514
Known GenesKPNA7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206830
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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