A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1876870



Internal ID17400180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17435226..17436321hg38UCSC Ensembl
Innerchr11:17456773..17457868hg19UCSC Ensembl
Innerchr11:17413349..17414444hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982989
Supporting Variants
SamplesHGDP00521
Known GenesABCC8
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)nssv1876870
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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