A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812648



Internal ID21257986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111166348..111166348hg38UCSC Ensembl
chr6:111487551..111487551hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384566
hg194566
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13707941, nssv13707843
Samples
Known GenesSLC16A10
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812648
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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