A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200542



Internal ID22349974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117097652..117097909hg38UCSC Ensembl
chr7:116737706..116737963hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338382, nssv14338383
SamplesHG00513, HG00514
Known GenesST7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200542
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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