A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926100



Internal ID22701327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61409286..61410480hg38UCSC Ensembl
chr11:61176758..61177952hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381195
hg191195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353537
Samples
Known GenesCPSF7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926100
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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