A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946297



Internal ID18593147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147036027..147038875hg38UCSC Ensembl
Innerchr1:146507583..146510432hg19UCSC Ensembl
Innerchr1:144974207..144977056hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382849
hg192850
hg182850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1791342, nssv1791338, nssv1791337, nssv1791336, nssv1791341, nssv1790411, nssv1790410, nssv1791340, nssv1791339, nssv1791343
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC728989
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946297
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