A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6452122



Internal ID21109675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114150401..114423800hg38UCSC Ensembl
chr9:116912681..117186080hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38273400
hg19273400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18222430
Samples
Known GenesAKNA, COL27A1, DFNB31, MIR455, ORM1, ORM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6452122
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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