A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946433



Internal ID18246597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157709388..157711185hg38UCSC Ensembl
Innerchr1:157679178..157680975hg19UCSC Ensembl
Innerchr1:155945802..155947599hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1801967, nssv1801968, nssv1801964, nssv1801965, nssv1801969, nssv1801972, nssv1801971, nssv1801970, nssv1801973, nssv1801966
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)nsv946433
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