A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973017



Internal ID18261546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8635335..8637635hg38UCSC Ensembl
Innerchr12:8787931..8790231hg19UCSC Ensembl
Innerchr12:8679198..8681498hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382301
hg192301
hg182301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1914458, nssv1914452, nssv1914456, nssv1914461, nssv1914460, nssv1914454, nssv1914457, nssv1914459, nssv1914455, nssv1914453
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)nsv973017
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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