A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945975



Internal ID18246139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63261992..63262583hg38UCSC Ensembl
Innerchr1:63727663..63728254hg19UCSC Ensembl
Innerchr1:63500251..63500842hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38592
hg19592
hg18592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1769393, nssv1769394, nssv1769389, nssv1769397, nssv1769388, nssv1769395, nssv1769392, nssv1769390, nssv1769396, nssv1769391
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLINC00466
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945975
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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