A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945303



Internal ID18245491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220697147..220697828hg38UCSC Ensembl
Innerchr1:220870489..220871170hg19UCSC Ensembl
Innerchr1:218937112..218937793hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1819525, nssv1819523, nssv1819521, nssv1819520, nssv1819522, nssv1819526, nssv1819519, nssv1819518, nssv1819527, nssv1819524
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesC1orf115
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945303
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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