A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973027



Internal ID18261556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11021169..11032136hg38UCSC Ensembl
Innerchr12:11173768..11184735hg19UCSC Ensembl
Innerchr12:11065035..11076002hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3810968
hg1910968
hg1810968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916714, nssv1914064, nssv1914066, nssv1914070, nssv1914068, nssv1916713, nssv1914067, nssv1916715, nssv1914069, nssv1914065
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRH1-PRR4, TAS2R19, TAS2R31
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973027
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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