A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983262



Internal ID18271770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1755460..1758308hg38UCSC Ensembl
Innerchr12:1864626..1867474hg19UCSC Ensembl
Innerchr12:1734887..1737735hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382849
hg192849
hg182849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1909322, nssv1909315, nssv1909323, nssv1909318, nssv1909317, nssv1909324, nssv1909319, nssv1909316, nssv1909321, nssv1909320
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesADIPOR2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983262
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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