A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975944



Internal ID18264465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67715829..67989171hg38UCSC Ensembl
Innerchr11:67483300..67756642hg19UCSC Ensembl
Innerchr11:67239876..67513218hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38273343
hg19273343
hg18273343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1893771, nssv1893763, nssv1893764, nssv1893769, nssv1893770, nssv1893765, nssv1893768, nssv1893766, nssv1893762, nssv1893767
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM86C2P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975944
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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