A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947502



Internal ID22723008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51432147..51432462hg38UCSC Ensembl
chr12:51825931..51826246hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358718
Samples
Known GenesSLC4A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947502
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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