A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340247



Internal ID20997800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121117320..121123850hg38UCSC Ensembl
chr2:121874896..121881426hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg386531
hg196531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206571
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340247
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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