A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945444



Internal ID18592295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247989082..247991498hg38UCSC Ensembl
Innerchr1:248152384..248154800hg19UCSC Ensembl
Innerchr1:246219007..246221423hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382417
hg192417
hg182417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1828989, nssv1828995, nssv1828996, nssv1828991, nssv1828992, nssv1828993, nssv1828994, nssv1828990, nssv1828987, nssv1828988
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOR2L13, OR2L1P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945444
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