A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200967



Internal ID22350343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50205970..50206028hg38UCSC Ensembl
chr7:50245566..50245624hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14334325
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200967
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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