A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975436



Internal ID18610644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3070649..3075588hg38UCSC Ensembl
Innerchr12:3179815..3184754hg19UCSC Ensembl
Innerchr12:3050076..3055015hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384940
hg194940
hg184940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1909427, nssv1909418, nssv1909425, nssv1909420, nssv1909422, nssv1909423, nssv1909426, nssv1909421, nssv1909419, nssv1909424
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975436
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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