A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2392509



Internal ID17775398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:11789561..11794180hg38UCSC Ensembl
Innerchr6:11789794..11794413hg19UCSC Ensembl
Innerchr6:11897780..11902399hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg384620
hg194620
hg184620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970076
Supporting Variants
SamplesHGDP00542
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)nssv2392509
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