A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193973



Internal ID21332866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753846..53753846hg38UCSC Ensembl
chr12:54147630..54147630hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926814
Supporting Variants
SamplesHG002
Known GenesCISTR-ACT
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193973
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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