A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975528



Internal ID18610736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106015548..106019546hg38UCSC Ensembl
Innerchr12:106409326..106413324hg19UCSC Ensembl
Innerchr12:104933456..104937454hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1942498, nssv1944066, nssv1942494, nssv1944067, nssv1942493, nssv1942496, nssv1942497, nssv1942495, nssv1944065, nssv1942492
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)nsv975528
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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