A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976579



Internal ID18265099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12100067..12113789hg38UCSC Ensembl
Innerchr12:12253001..12266723hg19UCSC Ensembl
Innerchr12:12144268..12157990hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3813723
hg1913723
hg1813723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1918143, nssv1918142, nssv1918146, nssv1918141, nssv1918144, nssv1918145, nssv1918140, nssv1918138, nssv1918139, nssv1918147
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976579
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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