A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352509



Internal ID22578178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31570462..31571186hg38UCSC Ensembl
chr12:31723396..31724120hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5925268
Supporting Variants
Samples
Known GenesDENND5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352509
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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