A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13689554



Internal ID21211408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47325026..47325026hg38UCSC Ensembl
chr17:45402392..45402392hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2797801
Supporting Variants
Samples
Known GenesEFCAB13
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13689554
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.326923


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