A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338350



Internal ID20995903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48753301..48759600hg38UCSC Ensembl
chr2:48980440..48986739hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209841
Samples
Known GenesLHCGR, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338350
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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