A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690387



Internal ID114053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101870000..101878128hg38UCSC Ensembl
chr12:102263778..102271906hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg388129
hg198129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143572
Supporting Variants
Samples
Known GenesDRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690387
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000944


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