A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193251



Internal ID21332136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58462761..58462761hg38UCSC Ensembl
chr12:58856544..58856544hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949621
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193251
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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