A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349622



Internal ID21007175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48740240..48741922hg38UCSC Ensembl
chr2:48967379..48969061hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086046
Samples
Known GenesLHCGR, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349622
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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