A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143572



Internal ID342773
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 StatusM
Merged Variants
Supporting Variantsnssv17690387
Samples
Known GenesDRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143572
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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