A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929268



Internal ID22704518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51500695..51502537hg38UCSC Ensembl
chr12:51894479..51896321hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381843
hg191843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351539
Samples
Known GenesSLC4A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929268
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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