A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975507



Internal ID18264029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65757830..65761194hg38UCSC Ensembl
Innerchr12:66151610..66154974hg19UCSC Ensembl
Innerchr12:64437877..64441241hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383365
hg193365
hg183365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1936611, nssv1936615, nssv1936614, nssv1936610, nssv1936612, nssv1936613, nssv1936618, nssv1936617, nssv1936619, nssv1936616
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPSAP52
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975507
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer