A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1919072



Internal ID17481093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27263143..27270059hg38UCSC Ensembl
Innerchr12:27416076..27422992hg19UCSC Ensembl
Innerchr12:27307343..27314259hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386917
hg196917
hg186917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975462
Supporting Variants
SamplesHGDP00998
Known GenesSTK38L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1919072
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer