A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945285



Internal ID18245473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214531984..214534011hg38UCSC Ensembl
Innerchr1:214705327..214707354hg19UCSC Ensembl
Innerchr1:212771950..212773977hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382028
hg192028
hg182028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1818687, nssv1818691, nssv1818685, nssv1818684, nssv1818683, nssv1818688, nssv1818690, nssv1818686, nssv1818689, nssv1818682
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTPN14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945285
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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