A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200123



Internal ID22349619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39914087..39914600hg38UCSC Ensembl
chr7:39953686..39954199hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14332773
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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