A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2807677



Internal ID21253015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71479163..71479163hg38UCSC Ensembl
chr2:71706293..71706293hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13687764
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2807677
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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