A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946466



Internal ID18593316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161559631..161586827hg38UCSC Ensembl
Innerchr1:161529421..161556617hg19UCSC Ensembl
Innerchr1:159796045..159823241hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3827197
hg1927197
hg1827197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804704, nssv1804712, nssv1804710, nssv1804707, nssv1804705, nssv1804711, nssv1804709, nssv1804708, nssv1804706, nssv1804703
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946466
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