A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330272



Internal ID20863428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45837300..46095309hg38UCSC Ensembl
chr1:46302972..46560981hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38258010
hg19258010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201371
Samples
Known GenesMAST2, PIK3R3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330272
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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