A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945991



Internal ID18246155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68481480..68484229hg38UCSC Ensembl
Innerchr1:68947163..68949912hg19UCSC Ensembl
Innerchr1:68719751..68722500hg18UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg382750
hg192750
hg182750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770857, nssv1770861, nssv1770862, nssv1770860, nssv1770859, nssv1770865, nssv1770856, nssv1770863, nssv1770864, nssv1770858
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDEPDC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945991
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