A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13690246



Internal ID21212099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125856264..125856264hg38UCSC Ensembl
chr12:126340810..126340810hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2790850
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13690246
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.578125


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