A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049620



Internal ID21958853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175171453..175171453hg38UCSC Ensembl
chr1:175140589..175140589hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg382368
hg192368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534757
Samples
Known GenesKIAA0040
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049620
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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