A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983288



Internal ID18618482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:13812128..13812736hg38UCSC Ensembl
Innerchr12:13965062..13965670hg19UCSC Ensembl
Innerchr12:13856329..13856937hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916927, nssv1916924, nssv1916923, nssv1916928, nssv1916929, nssv1916926, nssv1916930, nssv1916922, nssv1916921, nssv1916925
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGRIN2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983288
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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