A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337468



Internal ID20995021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48739680..48745742hg38UCSC Ensembl
chr2:48966819..48972881hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386063
hg196063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086045
Samples
Known GenesLHCGR, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337468
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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