A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975486



Internal ID18610694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49853866..49865765hg38UCSC Ensembl
Innerchr12:50247649..50259548hg19UCSC Ensembl
Innerchr12:48533916..48545815hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3811900
hg1911900
hg1811900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1927824, nssv1927820, nssv1927825, nssv1927826, nssv1927829, nssv1927823, nssv1927821, nssv1927822, nssv1927828, nssv1927827
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)nsv975486
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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