A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343375



Internal ID21000928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226668353..226856940hg38UCSC Ensembl
chr2:227533069..227721656hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38188588
hg19188588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206115
Samples
Known GenesIRS1, RHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343375
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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