A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13702900



Internal ID21224714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4797619..4797619hg38UCSC Ensembl
chr16:4847620..4847620hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2795795
Supporting Variants
Samples
Known GenesROGDI
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13702900
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.5625


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