A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967078



Internal ID18602307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149026677..149028282hg38UCSC Ensembl
Innerchr3:148744464..148746069hg19UCSC Ensembl
Innerchr3:150227154..150228759hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381606
hg191606
hg181606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2300610, nssv2300607, nssv2300611, nssv2300606, nssv2300604, nssv2300603, nssv2300608, nssv2300605, nssv2300609, nssv2300612
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGYG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967078
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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