A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501356



Internal ID278255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6881696..6901474hg38UCSC Ensembl
chr12:6990860..7010638hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3819779
hg1919779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055055
Samples
Known GenesDSTNP2, RPL13P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501356
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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