A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13681942



Internal ID21203801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003043..55003043hg38UCSC Ensembl
chr1:55468716..55468716hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801633
Supporting Variants
Samples
Known GenesBSND
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13681942
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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