A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14334326



Internal ID22208188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50450661..50450661hg38UCSC Ensembl
chr7:50518359..50518359hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564894
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14334326
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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