A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975228



Internal ID18263750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114529418..114531268hg38UCSC Ensembl
Innerchr11:114400140..114401990hg19UCSC Ensembl
Innerchr11:113905350..113907200hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg381851
hg191851
hg181851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1902697, nssv1902694, nssv1902699, nssv1902696, nssv1902695, nssv1902703, nssv1902701, nssv1902700, nssv1902702, nssv1902698
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNXPE1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975228
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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