A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2797801



Internal ID21243140
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 StatusM
Merged Variants
Supporting Variantsnssv13689554
Samples
Known GenesEFCAB13
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2797801
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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