A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983335



Internal ID18271843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57819874..57824613hg38UCSC Ensembl
Innerchr12:58213657..58218396hg19UCSC Ensembl
Innerchr12:56499924..56504663hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg384740
hg194740
hg184740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934134, nssv1934139, nssv1934137, nssv1934140, nssv1934135, nssv1934132, nssv1934131, nssv1934136, nssv1934133, nssv1934138
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCTDSP2, MIR26A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983335
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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