A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047390



Internal ID21956624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192172864..192172864hg38UCSC Ensembl
chr1:192141994..192141994hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529446
Samples
Known GenesRGS18
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047390
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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