A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973105



Internal ID18608320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94515203..94523678hg38UCSC Ensembl
Innerchr12:94908979..94917454hg19UCSC Ensembl
Innerchr12:93433110..93441585hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg388476
hg198476
hg188476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941229, nssv1941232, nssv1941228, nssv1941227, nssv1941233, nssv1941235, nssv1941230, nssv1941226, nssv1941234, nssv1941231
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973105
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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