A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946931



Internal ID18247095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148563916..148565164hg38UCSC Ensembl
Innerchr1:148299019..148300287hg19UCSC Ensembl
Innerchr1:146665643..146666911hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381249
hg191269
hg181269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2597914, nssv2597916, nssv2597915, nssv2597923, nssv2597919, nssv2597918, nssv2597921, nssv2597920, nssv2597922, nssv2597917
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946931
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