A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6039171



Internal ID21948514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21619672..21619733hg38UCSC Ensembl
chr18:19199633..19199694hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17634658
Samples
Known GenesSNRPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6039171
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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