A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13682505



Internal ID21204364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869943..52869943hg38UCSC Ensembl
chr1:53335615..53335615hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2802145
Supporting Variants
Samples
Known GenesZYG11A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13682505
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.390625


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