A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2814568



Internal ID21259906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345558..53345558hg38UCSC Ensembl
chr6:53210356..53210356hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13709388
Samples
Known GenesELOVL5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2814568
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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