A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961549



Internal ID18250109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202205622..202207296hg38UCSC Ensembl
Innerchr2:203070345..203072019hg19UCSC Ensembl
Innerchr2:202778590..202780264hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381675
hg191675
hg181675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2218735, nssv2218738, nssv2218742, nssv2218741, nssv2218736, nssv2218739, nssv2218743, nssv2218740, nssv2218737, nssv2218734
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSUMO1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961549
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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