A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2797231



Internal ID21242569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80315777..80315777hg38UCSC Ensembl
chr17:78289577..78289577hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13705829
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2797231
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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