A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324971



Internal ID20858101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48434001..48438800hg38UCSC Ensembl
chr1:48899673..48904472hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201411
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324971
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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