A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350518



Internal ID21008071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188733768..188734794hg38UCSC Ensembl
chr2:189598495..189599521hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082900
Samples
Known GenesDIRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350518
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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