A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946244



Internal ID18593094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148986966..149076073hg38UCSC Ensembl
Innerchr1:144811539..144897508hg19UCSC Ensembl
Innerchr1:143522896..143608865hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3889108
hg1985970
hg1885970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1790052, nssv1790053, nssv1790056, nssv1790051, nssv1790050, nssv1790057, nssv1790058, nssv1790055, nssv1790054, nssv1790049
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142, NBPF12, NBPF8, NBPF9, PDE4DIP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946244
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