A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17616033



Internal ID21808080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51505157..51505231hg38UCSC Ensembl
chr12:51898941..51899015hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6023140
Supporting Variants
Samples
Known GenesSLC4A8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17616033
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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