A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975502



Internal ID18264024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62021618..62022414hg38UCSC Ensembl
Innerchr12:62415399..62416195hg19UCSC Ensembl
Innerchr12:60701666..60702462hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38797
hg19797
hg18797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934605, nssv1934600, nssv1934598, nssv1934601, nssv1934603, nssv1934606, nssv1934602, nssv1934607, nssv1934599, nssv1934604
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM19A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975502
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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