A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6028712



Internal ID21938055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:298783..305908hg38UCSC Ensembl
chr12:407949..415074hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387126
hg197126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604384
Samples
Known GenesKDM5A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6028712
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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