A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340813



Internal ID20998366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179263401..179265300hg38UCSC Ensembl
chr2:180128128..180130027hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208066
Samples
Known GenesSESTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340813
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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