A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1753082



Internal ID17389270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12079536..12081203hg38UCSC Ensembl
Innerchr1:12139593..12141260hg19UCSC Ensembl
Innerchr1:12062180..12063847hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381668
hg191668
hg181668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945772
Supporting Variants
SamplesHGDP00456
Known GenesTNFRSF8
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)nssv1753082
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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