A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13678152



Internal ID21200012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115686864..115690220hg38UCSC Ensembl
chr1:116229485..116232841hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383357
hg193357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2800593
Supporting Variants
Samples
Known GenesVANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13678152
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.265625


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