A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946254



Internal ID18593104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148752296..148791404hg38UCSC Ensembl
Innerchr1:145096908..145136223hg19UCSC Ensembl
Innerchr1:143808265..143847580hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3839109
hg1939316
hg1839316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1789467, nssv1789466, nssv1789465, nssv1789462, nssv1789463, nssv1789460, nssv1789461, nssv1789468, nssv1789469, nssv1789464
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142, NBPF12, NBPF9, SEC22B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946254
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