A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975495



Internal ID18264017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53445717..53447727hg38UCSC Ensembl
Innerchr12:53839501..53841511hg19UCSC Ensembl
Innerchr12:52125768..52127778hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382011
hg192011
hg182011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1931649, nssv1931654, nssv1931652, nssv1931651, nssv1931646, nssv1931653, nssv1931645, nssv1931648, nssv1931650, nssv1931647
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPRR13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975495
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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