A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945957



Internal ID18592807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54089835..54090449hg38UCSC Ensembl
Innerchr1:54555508..54556122hg19UCSC Ensembl
Innerchr1:54328096..54328710hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38615
hg19615
hg18615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1766768, nssv1766766, nssv1766764, nssv1766769, nssv1766771, nssv1766767, nssv1766762, nssv1766770, nssv1766763, nssv1766765
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTCEANC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945957
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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