A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976634



Internal ID18265154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61879412..61881610hg38UCSC Ensembl
Innerchr12:62273193..62275391hg19UCSC Ensembl
Innerchr12:60559460..60561658hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934508, nssv1934509, nssv1934506, nssv1934507, nssv1934501, nssv1934503, nssv1934510, nssv1934502, nssv1934504, nssv1934505
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)nsv976634
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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