A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1894469



Internal ID17780574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71557595..71566578hg38UCSC Ensembl
Innerchr11:71268641..71277624hg19UCSC Ensembl
Innerchr11:70946289..70955272hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg388984
hg198984
hg188984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983039
Supporting Variants
SamplesHGDP00665
Known GenesKRTAP5-10
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)nssv1894469
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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