A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14333513



Internal ID22123582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44883774..44883774hg38UCSC Ensembl
chr7:44923373..44923373hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564804
Supporting Variants
SamplesHG00512
Known GenesPURB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14333513
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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