A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17606643



Internal ID21798690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76028175..76028239hg38UCSC Ensembl
chr12:76421955..76422019hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6028058
Supporting Variants
Samples
Known GenesPHLDA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17606643
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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