A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983298



Internal ID18271806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29657342..29659810hg38UCSC Ensembl
Innerchr12:29810275..29812743hg19UCSC Ensembl
Innerchr12:29701542..29704010hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382469
hg192469
hg182469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1922005, nssv1922001, nssv1921999, nssv1922000, nssv1922002, nssv1921998, nssv1922006, nssv1922003, nssv1922004, nssv1921997
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMTC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983298
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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