A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357582



Internal ID22583251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101156023..101156414hg38UCSC Ensembl
chr12:101549801..101550192hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942089
Supporting Variants
Samples
Known GenesSLC5A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357582
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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