A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346712



Internal ID21004265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233862801..233876100hg38UCSC Ensembl
chr2:234771447..234784746hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3813300
hg1913300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206251
Samples
Known GenesMSL3P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346712
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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