A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047195



Internal ID21956428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163344641..163344641hg38UCSC Ensembl
chr1:163314431..163314431hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524834
Samples
Known GenesNUF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047195
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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