A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975455



Internal ID18610663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:15435736..15445450hg38UCSC Ensembl
Innerchr12:15588670..15598384hg19UCSC Ensembl
Innerchr12:15479937..15489651hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg389715
hg199715
hg189715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1918013, nssv1918012, nssv1918011, nssv1918006, nssv1918010, nssv1918008, nssv1918009, nssv1918005, nssv1918007, nssv1918004
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTPRO
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975455
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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