A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945431



Internal ID18245596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246634315..246636929hg38UCSC Ensembl
Innerchr1:246797617..246800231hg19UCSC Ensembl
Innerchr1:244864240..244866854hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382615
hg192615
hg182615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1828390, nssv1828396, nssv1828397, nssv1828388, nssv1828393, nssv1828395, nssv1828392, nssv1828394, nssv1828389, nssv1828391
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCNST
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945431
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