A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983313



Internal ID18618507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41545426..41547242hg38UCSC Ensembl
Innerchr12:41939228..41941044hg19UCSC Ensembl
Innerchr12:40225495..40227311hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381817
hg191817
hg181817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1926641, nssv1926642, nssv1926647, nssv1926643, nssv1926645, nssv1926649, nssv1926648, nssv1926644, nssv1926646, nssv1926640
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDZRN4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983313
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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