A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983280



Internal ID18618474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9634743..9643738hg38UCSC Ensembl
Innerchr12:9787339..9796334hg19UCSC Ensembl
Innerchr12:9678606..9687601hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388996
hg198996
hg188996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1915542, nssv1915543, nssv1915546, nssv1915540, nssv1915548, nssv1915541, nssv1915544, nssv1915547, nssv1915545, nssv1915539
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC374443
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983280
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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