A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1882797



Internal ID17763643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43733863..43736417hg38UCSC Ensembl
Innerchr11:43755413..43757967hg19UCSC Ensembl
Innerchr11:43711989..43714543hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382555
hg192555
hg182555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983006
Supporting Variants
SamplesHGDP00542
Known GenesHSD17B12
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)nssv1882797
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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