A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973108



Internal ID18608323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101415044..101425186hg38UCSC Ensembl
Innerchr12:101808822..101818964hg19UCSC Ensembl
Innerchr12:100332953..100343095hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3810143
hg1910143
hg1810143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941790, nssv1941791, nssv1941788, nssv1941796, nssv1941795, nssv1941792, nssv1941787, nssv1941794, nssv1941789, nssv1941793
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)nsv973108
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