A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945326



Internal ID18592177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225789343..225790762hg38UCSC Ensembl
Innerchr1:225977045..225978464hg19UCSC Ensembl
Innerchr1:224043668..224045087hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381420
hg191420
hg181420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1820145, nssv1820152, nssv1820144, nssv1820153, nssv1820148, nssv1820146, nssv1820150, nssv1820149, nssv1820151, nssv1820147
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSRP9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945326
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