A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947975



Internal ID18594821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48064367..48181515hg38UCSC Ensembl
Innerchr10:49272407..49389558hg19UCSC Ensembl
Innerchr10:48942413..49059564hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38117149
hg19117152
hg18117152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1847535, nssv1847537, nssv1847533, nssv1847536, nssv1847531, nssv1847538, nssv1847539, nssv1847530, nssv1847532, nssv1847534
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFRMPD2, FRMPD2P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947975
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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