A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961529



Internal ID18596775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170600663..170602407hg38UCSC Ensembl
Innerchr2:171457173..171458917hg19UCSC Ensembl
Innerchr2:171165419..171167163hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381745
hg191745
hg181745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2212359, nssv2212361, nssv2212356, nssv2212363, nssv2212357, nssv2212358, nssv2212355, nssv2212364, nssv2212360, nssv2212362
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYO3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961529
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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