A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975473



Internal ID18610681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31742496..31755246hg38UCSC Ensembl
Innerchr12:31895430..31908180hg19UCSC Ensembl
Innerchr12:31786697..31799447hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3812751
hg1912751
hg1812751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1923011, nssv1923010, nssv1923012, nssv1923009, nssv1923005, nssv1923006, nssv1923008, nssv1923004, nssv1923007, nssv1923003
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)nsv975473
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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