A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975527



Internal ID18264049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104513757..104515458hg38UCSC Ensembl
Innerchr12:104907535..104909236hg19UCSC Ensembl
Innerchr12:103431665..103433366hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381702
hg191702
hg181702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1943871, nssv1943879, nssv1943878, nssv1943876, nssv1943875, nssv1943880, nssv1943877, nssv1943873, nssv1943872, nssv1943874
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCHST11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975527
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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