A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983306



Internal ID18618500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31791006..31791506hg38UCSC Ensembl
Innerchr12:31943940..31944440hg19UCSC Ensembl
Innerchr12:31835207..31835707hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1923893, nssv1923898, nssv1923899, nssv1923901, nssv1923897, nssv1923892, nssv1923895, nssv1923896, nssv1923900, nssv1923894
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesH3F3C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983306
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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