A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975435



Internal ID18610643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2777551..2784398hg38UCSC Ensembl
Innerchr12:2886717..2893564hg19UCSC Ensembl
Innerchr12:2756978..2763825hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386848
hg196848
hg186848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1910335, nssv1910341, nssv1910336, nssv1910337, nssv1910340, nssv1910339, nssv1910344, nssv1910338, nssv1910343, nssv1910342
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975435
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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