A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964099



Internal ID18599337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139695051..139698548hg38UCSC Ensembl
Innerchr4:140616205..140619702hg19UCSC Ensembl
Innerchr4:140835655..140839152hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg383498
hg193498
hg183498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337008, nssv2337005, nssv2337002, nssv2337011, nssv2337003, nssv2337009, nssv2337006, nssv2337010, nssv2337007, nssv2337004
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMGST2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964099
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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