A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979147



Internal ID18614350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171371262..171376155hg38UCSC Ensembl
Innerchr2:172227772..172232665hg19UCSC Ensembl
Innerchr2:171936018..171940911hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384894
hg194894
hg184894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2211514, nssv2211508, nssv2211513, nssv2211512, nssv2211509, nssv2211511, nssv2211506, nssv2211510, nssv2211507, nssv2211505
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMETTL8
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979147
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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