A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984069



Internal ID18619259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49480113..49490962hg38UCSC Ensembl
Innerchr15:49772310..49783159hg19UCSC Ensembl
Innerchr15:47559602..47570451hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3810850
hg1910850
hg1810850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2024908, nssv2024907, nssv2024912, nssv2024913, nssv2024910, nssv2024905, nssv2024911, nssv2024904, nssv2024906, nssv2024909
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM227B, FGF7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984069
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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