A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2421004



Internal ID17493467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:113861243..113862546hg38UCSC Ensembl
Innerchr6:114182421..114183723hg19UCSC Ensembl
Innerchr6:114289114..114290416hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381304
hg191303
hg181303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965756
Supporting Variants
SamplesHGDP00998
Known GenesMARCKS
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)nssv2421004
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