A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200714



Internal ID22350124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100449563..100450162hg38UCSC Ensembl
chr7:100047186..100047785hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8668n152
Supporting Variantsnssv14336289, nssv14336290
SamplesNA19240, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200714
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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