A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339600



Internal ID20997153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48035093..48217275hg38UCSC Ensembl
chr2:48262232..48444414hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38182183
hg19182183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086007
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339600
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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