A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973015



Internal ID18261544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8218972..8450365hg38UCSC Ensembl
Innerchr12:8371568..8602961hg19UCSC Ensembl
Innerchr12:8262835..8494228hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38231394
hg19231394
hg18231394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1913470, nssv1913469, nssv1913467, nssv1913473, nssv1913466, nssv1913471, nssv1913474, nssv1913475, nssv1913468, nssv1913472
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM86FP, FAM90A1, LINC00937
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973015
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer