A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5920223



Internal ID22695446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8085298..8085984hg38UCSC Ensembl
chr12:8237894..8238580hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362923
Samples
Known GenesNECAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5920223
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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