A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13711550



Internal ID21233308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6949995..6949995hg38UCSC Ensembl
chr12:7059158..7059158hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382309
hg192309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791711
Supporting Variants
Samples
Known GenesPTPN6
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13711550
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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