A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6034130



Internal ID21943473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54459709..54460024hg38UCSC Ensembl
chr12:54853493..54853808hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17617330
Samples
Known GenesGTSF1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6034130
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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