A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193235



Internal ID21332120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53930528..53930528hg38UCSC Ensembl
chr12:54324312..54324312hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953096
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193235
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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