A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316287



Internal ID20849366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169943701..169958500hg38UCSC Ensembl
chr1:169912842..169927641hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3814800
hg1914800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv438n223
Supporting Variantsnssv18201657
Samples
Known GenesKIFAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316287
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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