A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983361



Internal ID18618555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104973894..104982425hg38UCSC Ensembl
Innerchr12:105367672..105376203hg19UCSC Ensembl
Innerchr12:103891802..103900333hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388532
hg198532
hg188532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1943977, nssv1943971, nssv1943973, nssv1943968, nssv1943972, nssv1943969, nssv1943976, nssv1943975, nssv1943970, nssv1943974
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)nsv983361
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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