A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335313



Internal ID20868505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200974330..201208004hg38UCSC Ensembl
chr1:200943458..201177132hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38233675
hg19233675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201802
Samples
Known GenesASCL5, CACNA1S, IGFN1, KIF21B, TMEM9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335313
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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