A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049512



Internal ID21958745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41927407..41930513hg38UCSC Ensembl
chr21:43347516..43350622hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383107
hg193107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17645940
Samples
Known GenesC2CD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049512
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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