A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975522



Internal ID18610730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93639956..93641547hg38UCSC Ensembl
Innerchr12:94033732..94035323hg19UCSC Ensembl
Innerchr12:92557863..92559454hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381592
hg191592
hg181592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1942087, nssv1942089, nssv1942081, nssv1942085, nssv1942090, nssv1942083, nssv1942088, nssv1942084, nssv1942082, nssv1942086
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)nsv975522
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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