A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975520



Internal ID18610728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92167734..92170217hg38UCSC Ensembl
Innerchr12:92561510..92563993hg19UCSC Ensembl
Innerchr12:91085641..91088124hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg382484
hg192484
hg182484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1939715, nssv1939714, nssv1939713, nssv1939716, nssv1939711, nssv1939717, nssv1939718, nssv1939709, nssv1939712, nssv1939710
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)nsv975520
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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