A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947974



Internal ID18594820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47992286..48064367hg38UCSC Ensembl
Innerchr10:49200323..49272407hg19UCSC Ensembl
Innerchr10:48870329..48942413hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3872082
hg1972085
hg1872085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1847779, nssv1847776, nssv1847780, nssv1847243, nssv1847777, nssv1847774, nssv1847773, nssv1847772, nssv1847778, nssv1847775
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTGLF12P, FAM25C, FAM25G
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947974
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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