A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13707638



Internal ID21229434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:748143..748143hg38UCSC Ensembl
chr8:698143..698143hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2816709
Supporting Variants
Samples
Known GenesERICH1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13707638
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.25


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