A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511933



Internal ID288501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7757675..7818502hg38UCSC Ensembl
chr12:7910271..7971098hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3860828
hg1960828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056107
Samples
Known GenesNANOG, NANOGNB, SLC2A14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511933
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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