A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945883



Internal ID18246047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37545016..37557119hg38UCSC Ensembl
Innerchr1:38010617..38022720hg19UCSC Ensembl
Innerchr1:37783204..37795307hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3812104
hg1912104
hg1812104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1759126, nssv1759127, nssv1759123, nssv1759124, nssv1759128, nssv1759125, nssv1759121, nssv1759120, nssv1759122, nssv1759119
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNALI1, SNIP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945883
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