A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812596



Internal ID21257934
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 StatusM
Merged Variants
Supporting Variantsnssv13710336
Samples
Known GenesTMEM167A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812596
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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