A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1909318



Internal ID17481805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1755460..1758308hg38UCSC Ensembl
Innerchr12:1864626..1867474hg19UCSC Ensembl
Innerchr12:1734887..1737735hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382849
hg192849
hg182849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983262
Supporting Variants
SamplesHGDP00998
Known GenesADIPOR2
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)nssv1909318
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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