A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1963646



Internal ID17729056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:51459059..51461272hg38UCSC Ensembl
Innerchr13:52033195..52035408hg19UCSC Ensembl
Innerchr13:50931196..50933409hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg382214
hg192214
hg182214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977240
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)nssv1963646
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