A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800691



Internal ID21246029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230275923..230275976hg38UCSC Ensembl
chr1:230411669..230411722hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13687227
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800691
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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