A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047835



Internal ID21957068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20204346..20204346hg38UCSC Ensembl
chr2:20404107..20404107hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531480
Samples
Known GenesSDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047835
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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