A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2797800



Internal ID21243139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47325025..47325025hg38UCSC Ensembl
chr17:45402391..45402391hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13696382
Samples
Known GenesEFCAB13
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2797800
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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