A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913077



Internal ID22688293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46551623..46551779hg38UCSC Ensembl
chr11:46573173..46573329hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353080
Samples
Known GenesAMBRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913077
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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