A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209955



Internal ID22357951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100652588..100653042hg38UCSC Ensembl
chr7:100250211..100250665hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14336301, nssv14336300
SamplesHG00513, HG00514
Known GenesACTL6B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209955
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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