A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972067



Internal ID18260597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106824117..106827275hg38UCSC Ensembl
Innerchr11:106694843..106698001hg19UCSC Ensembl
Innerchr11:106200053..106203211hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383159
hg193159
hg183159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1903022, nssv1903018, nssv1903019, nssv1903020, nssv1903024, nssv1903026, nssv1903023, nssv1903021, nssv1903017, nssv1903025
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGUCY1A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972067
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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