A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976563



Internal ID18611769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8133599..8135640hg38UCSC Ensembl
Innerchr12:8286195..8288236hg19UCSC Ensembl
Innerchr12:8177462..8179503hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382042
hg192042
hg182042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1911964, nssv1911968, nssv1911967, nssv1911965, nssv1911959, nssv1911960, nssv1911961, nssv1911963, nssv1911962, nssv1911966
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCLEC4A, POU5F1P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976563
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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