A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17616371



Internal ID21808418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23642791..23643104hg38UCSC Ensembl
chr12:23795725..23796038hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6036332
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17616371
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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