A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973026



Internal ID18608241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10986051..10987485hg38UCSC Ensembl
Innerchr12:11138650..11140084hg19UCSC Ensembl
Innerchr12:11029917..11031351hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381435
hg191435
hg181435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916625, nssv1916618, nssv1916616, nssv1916617, nssv1916624, nssv1916619, nssv1916620, nssv1916621, nssv1916623, nssv1916622
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRH1-PRR4, TAS2R50
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973026
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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