A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13707452



Internal ID21229244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51423423..51423423hg38UCSC Ensembl
chr18:48949793..48949793hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2797733
Supporting Variants
Samples
Known GenesLOC100287225
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13707452
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.78125


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