A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13677220



Internal ID21199055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50615368..50615368hg38UCSC Ensembl
chr3:50652799..50652799hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2808712
Supporting Variants
Samples
Known GenesMAPKAPK3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13677220
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.15625


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