A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961419



Internal ID18596665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74214095..74215947hg38UCSC Ensembl
Innerchr2:74441222..74443074hg19UCSC Ensembl
Innerchr2:74294730..74296582hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381853
hg191853
hg181853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2176827, nssv2176832, nssv2176831, nssv2176833, nssv2176835, nssv2176829, nssv2176830, nssv2176836, nssv2176834, nssv2176828
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTHFD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961419
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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