A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2432321



Internal ID17838436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168286849..168288791hg38UCSC Ensembl
Innerchr6:168687529..168689471hg19UCSC Ensembl
Innerchr6:168430378..168432320hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381943
hg191943
hg181943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970194
Supporting Variants
SamplesHGDP00998
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)nssv2432321
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