A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6001002



Internal ID21910345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133502724..133502804hg38UCSC Ensembl
chr6:133823862..133823942hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17572453
Samples
Known GenesEYA4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6001002
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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