A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6028579



Internal ID21937922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80832021..80837030hg38UCSC Ensembl
chr12:81225800..81230809hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg385010
hg195010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610197
Samples
Known GenesLIN7A, MIR617
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6028579
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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