A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13710336



Internal ID21232105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83060040..83060040hg38UCSC Ensembl
chr5:82355859..82355859hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383312
hg193312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2812596
Supporting Variants
Samples
Known GenesTMEM167A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13710336
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.390625


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