A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973109



Internal ID18608324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101486439..101487997hg38UCSC Ensembl
Innerchr12:101880217..101881775hg19UCSC Ensembl
Innerchr12:100404348..100405906hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381559
hg191559
hg181559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941891, nssv1941890, nssv1941893, nssv1941888, nssv1941885, nssv1941892, nssv1941884, nssv1941886, nssv1941887, nssv1941889
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPIC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973109
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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