A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944265



Internal ID22719727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53095353..53095521hg38UCSC Ensembl
chr16:53129265..53129433hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377745
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944265
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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