A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975957



Internal ID18264478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85857855..85859095hg38UCSC Ensembl
Innerchr11:85568898..85570138hg19UCSC Ensembl
Innerchr11:85246546..85247786hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381241
hg191241
hg181241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1898640, nssv1898645, nssv1898649, nssv1898647, nssv1898644, nssv1898648, nssv1898643, nssv1898641, nssv1898642, nssv1898646
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC83
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975957
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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