A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973116



Internal ID18608331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110835783..110842629hg38UCSC Ensembl
Innerchr12:111273587..111280433hg19UCSC Ensembl
Innerchr12:109757970..109764816hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg386847
hg196847
hg186847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1943419, nssv1943422, nssv1943423, nssv1943416, nssv1943421, nssv1943420, nssv1943415, nssv1943418, nssv1943424, nssv1943417
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)nsv973116
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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