A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1895612



Internal ID17391672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71619472..71904077hg38UCSC Ensembl
Innerchr11:71330518..71615123hg19UCSC Ensembl
Innerchr11:71008166..71292771hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38284606
hg19284606
hg18284606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972041
Supporting Variants
SamplesHGDP00456
Known GenesALG1L9P, DEFB108B, FAM86C1, LOC100129216, LOC100133315, ZNF705E
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)nssv1895612
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