A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946427



Internal ID18593277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157128266..157129266hg38UCSC Ensembl
Innerchr1:157098058..157099058hg19UCSC Ensembl
Innerchr1:155364682..155365682hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1801285, nssv1801288, nssv1801289, nssv1801280, nssv1801287, nssv1801281, nssv1801283, nssv1801286, nssv1801282, nssv1801284
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYCSP52, ETV3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946427
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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