A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946618



Internal ID18246782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207044050..207045293hg38UCSC Ensembl
Innerchr1:207217395..207218638hg19UCSC Ensembl
Innerchr1:205284018..205285261hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381244
hg191244
hg181244
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816321, nssv1816328, nssv1816322, nssv1816319, nssv1816325, nssv1816324, nssv1816323, nssv1816326, nssv1816327, nssv1816320
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesYOD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946618
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