A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143701



Internal ID342902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27722650..27730000hg38UCSC Ensembl
chr12:27875583..27882933hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387351
hg197351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054171
Samples
Known GenesMRPS35
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143701
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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