A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946535



Internal ID18593385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182958486..182961132hg38UCSC Ensembl
Innerchr1:182927621..182930267hg19UCSC Ensembl
Innerchr1:181194244..181196890hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382647
hg192647
hg182647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809921, nssv1809925, nssv1809922, nssv1809920, nssv1809917, nssv1809919, nssv1809924, nssv1809918, nssv1809923, nssv1809916
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946535
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