A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975441



Internal ID18610649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9287160..9317183hg38UCSC Ensembl
Innerchr12:9439756..9469779hg19UCSC Ensembl
Innerchr12:9331023..9361046hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3830024
hg1930024
hg1830024
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1912230, nssv1912232, nssv1914859, nssv1914860, nssv1914862, nssv1914861, nssv1914864, nssv1914865, nssv1914863, nssv1912231
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC642846
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975441
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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