A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946515



Internal ID18593365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175921001..175934346hg38UCSC Ensembl
Innerchr1:175890137..175903482hg19UCSC Ensembl
Innerchr1:174156760..174170105hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3813346
hg1913346
hg1813346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1806729, nssv1806728, nssv1806733, nssv1806727, nssv1806736, nssv1806734, nssv1806730, nssv1806731, nssv1806732, nssv1806735
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946515
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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