A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973072



Internal ID18261601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54076287..54127781hg38UCSC Ensembl
Innerchr12:54470071..54521565hg19UCSC Ensembl
Innerchr12:52756338..52807832hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3851495
hg1951495
hg1851495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932670, nssv1932673, nssv1932669, nssv1932671, nssv1932666, nssv1932672, nssv1932668, nssv1932674, nssv1932665, nssv1932667
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFLJ12825, LOC100240734, LOC100240735, LOC400043
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973072
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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