A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6002304



Internal ID21911647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127494649..127494718hg38UCSC Ensembl
chr9:130256928..130256997hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17591148
Samples
Known GenesLRSAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6002304
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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