A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976600



Internal ID18611806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37462893..38053899hg38UCSC Ensembl
Innerchr12:37856695..38447701hg19UCSC Ensembl
Innerchr12:36142861..36733968hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38591007
hg19591007
hg18591108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1924442, nssv1924441, nssv1924439, nssv1924447, nssv1924446, nssv1924444, nssv1924440, nssv1924445, nssv1924443, nssv1924438
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)nsv976600
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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