A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5915164



Internal ID22690382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71439704..71447532hg38UCSC Ensembl
chr11:71150750..71158578hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg387829
hg197829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350167
Samples
Known GenesDHCR7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5915164
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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