A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317296



Internal ID20850380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169941401..169956600hg38UCSC Ensembl
chr1:169910542..169925741hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3815200
hg1915200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv438n223
Supporting Variantsnssv18201656
Samples
Known GenesKIFAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317296
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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