A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2815252



Internal ID21260590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130591388..130591388hg38UCSC Ensembl
chr7:130275658..130275658hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13710986
Samples
Known GenesCOPG2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2815252
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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