A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964101



Internal ID18599339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143554531..143556705hg38UCSC Ensembl
Innerchr4:144475684..144477858hg19UCSC Ensembl
Innerchr4:144695134..144697308hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382175
hg192175
hg182175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337823, nssv2337824, nssv2337826, nssv2337825, nssv2337827, nssv2337830, nssv2337822, nssv2337828, nssv2337829, nssv2337821
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSMARCA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964101
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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