A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320098



Internal ID20853196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230786979..231254880hg38UCSC Ensembl
chr1:230922725..231390626hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38467902
hg19467902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202772
Samples
Known GenesARV1, C1orf131, C1orf198, CAPN9, FAM89A, GNPAT, LOC149373, MIR1182, TRIM67, TTC13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320098
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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