A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1918045



Internal ID17739356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11498214..11500827hg38UCSC Ensembl
Innerchr12:11651148..11653761hg19UCSC Ensembl
Innerchr12:11542415..11545028hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382614
hg192614
hg182614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976577
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv1918045
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