A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177992



Internal ID20745032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47607726..47749108hg38UCSC Ensembl
chr11:47629278..47770660hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38141383
hg19141383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473988
Supporting Variants
Samples
Known GenesAGBL2, FNBP4, MTCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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