A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913049



Internal ID22688265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47139574..47152178hg38UCSC Ensembl
chr11:47161125..47173729hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3812605
hg1912605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354285
Samples
Known GenesC11orf49
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913049
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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