A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800593



Internal ID21245931
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 StatusM
Merged Variants
Supporting Variantsnssv13678152
Samples
Known GenesVANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800593
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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