A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973014



Internal ID18608229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8014160..8019191hg38UCSC Ensembl
Innerchr12:8166756..8171787hg19UCSC Ensembl
Innerchr12:8058023..8063054hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385032
hg195032
hg185032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911770, nssv1911768, nssv1911766, nssv1911773, nssv1911771, nssv1911767, nssv1911772, nssv1911769, nssv1911765, nssv1911774
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)nsv973014
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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