A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975466



Internal ID18263988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29388959..29394869hg38UCSC Ensembl
Innerchr12:29541892..29547802hg19UCSC Ensembl
Innerchr12:29433159..29439069hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg385911
hg195911
hg185911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1921890, nssv1921891, nssv1921893, nssv1921895, nssv1921892, nssv1921889, nssv1921888, nssv1921887, nssv1921886, nssv1921894
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesOVCH1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975466
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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