A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2396000



Internal ID17740943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:19613036..19626151hg38UCSC Ensembl
Innerchr6:19613267..19626382hg19UCSC Ensembl
Innerchr6:19721246..19734361hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3813116
hg1913116
hg1813116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965684
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)nssv2396000
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