A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945954



Internal ID18592804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53071453..53073481hg38UCSC Ensembl
Innerchr1:53537125..53539153hg19UCSC Ensembl
Innerchr1:53309713..53311741hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382029
hg192029
hg182029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1768627, nssv1768630, nssv1768631, nssv1768623, nssv1768626, nssv1768624, nssv1768632, nssv1768629, nssv1768625, nssv1768628
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPODN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945954
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