A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346680



Internal ID21004233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30468013..30469221hg38UCSC Ensembl
chr2:30690879..30692087hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085187
Samples
Known GenesLCLAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346680
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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