A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13678091



Internal ID21199948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:147489738..147489738hg38UCSC Ensembl
chr1:146961561..146961561hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2800130
Supporting Variants
Samples
Known GenesLINC00624
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13678091
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.609375


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