A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1847585



Internal ID17390082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48743489..48745836hg38UCSC Ensembl
Innerchr10:49951534..49953881hg19UCSC Ensembl
Innerchr10:49621540..49623887hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382348
hg192348
hg182348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947977
Supporting Variants
SamplesHGDP00456
Known GenesWDFY4
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)nssv1847585
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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