A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976564



Internal ID18611770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8162824..8189663hg38UCSC Ensembl
Innerchr12:8315420..8342259hg19UCSC Ensembl
Innerchr12:8206687..8233526hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3826840
hg1926840
hg1826840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1913120, nssv1913118, nssv1913117, nssv1913116, nssv1913115, nssv1913113, nssv1913112, nssv1913119, nssv1913114, nssv1913121
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM66C, ZNF705A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976564
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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