A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945313



Internal ID18245501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223860859..223872934hg38UCSC Ensembl
Innerchr1:224048561..224060636hg19UCSC Ensembl
Innerchr1:222115184..222127259hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3812076
hg1912076
hg1812076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1820090, nssv1820089, nssv1820092, nssv1820091, nssv1820094, nssv1820087, nssv1820085, nssv1820093, nssv1820088, nssv1820086
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)nsv945313
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