A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350567



Internal ID21008120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180980001..180982600hg38UCSC Ensembl
chr2:181844728..181847327hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18081133
Samples
Known GenesUBE2E3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350567
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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