A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973114



Internal ID18261643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110459834..110465115hg38UCSC Ensembl
Innerchr12:110897639..110902920hg19UCSC Ensembl
Innerchr12:109382022..109387303hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg385282
hg195282
hg185282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1944831, nssv1944822, nssv1944823, nssv1944828, nssv1944824, nssv1944829, nssv1944825, nssv1944826, nssv1944827, nssv1944830
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGPN3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973114
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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