A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946160



Internal ID18593010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:114913831..114916014hg38UCSC Ensembl
Innerchr1:115456452..115458635hg19UCSC Ensembl
Innerchr1:115257975..115260158hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382184
hg192184
hg182184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1783651, nssv1783653, nssv1783646, nssv1783648, nssv1783650, nssv1783654, nssv1783647, nssv1783645, nssv1783652, nssv1783649
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSYCP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946160
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