A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946501



Internal ID18246665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171339443..171341672hg38UCSC Ensembl
Innerchr1:171308582..171310811hg19UCSC Ensembl
Innerchr1:169575206..169577435hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg382230
hg192230
hg182230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804476, nssv1804469, nssv1804475, nssv1804474, nssv1804471, nssv1804467, nssv1804470, nssv1804472, nssv1804473, nssv1804468
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFMO4, TOP1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946501
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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