A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367045



Internal ID22592714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130095877..130095970hg38UCSC Ensembl
chr11:129965772..129965865hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916292
Supporting Variants
Samples
Known GenesAPLP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367045
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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