A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946408



Internal ID18246572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154963421..154964023hg38UCSC Ensembl
Innerchr1:154935897..154936499hg19UCSC Ensembl
Innerchr1:153202521..153203123hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38603
hg19603
hg18603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1798529, nssv1798538, nssv1798533, nssv1798532, nssv1798531, nssv1798535, nssv1798536, nssv1798534, nssv1798537, nssv1798530
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSHC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946408
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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