A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13696654



Internal ID21218505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30752219..30752219hg38UCSC Ensembl
chr16:30763540..30763540hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2795878
Supporting Variants
Samples
Known GenesPHKG2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13696654
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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