A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944604



Internal ID22720071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95908468..95908683hg38UCSC Ensembl
chr12:96302246..96302461hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358383
Samples
Known GenesCCDC38
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944604
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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