A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812339



Internal ID21257677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13925070..13925070hg38UCSC Ensembl
chr6:13925301..13925301hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13709873
Samples
Known GenesRNF182
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812339
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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