A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945887



Internal ID18592737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39004113..39005894hg38UCSC Ensembl
Innerchr1:39469785..39471566hg19UCSC Ensembl
Innerchr1:39242372..39244153hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381782
hg191782
hg181782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1761665, nssv1761668, nssv1761664, nssv1761670, nssv1761666, nssv1761669, nssv1761672, nssv1761667, nssv1761663, nssv1761671
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAKIRIN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945887
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