A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961020



Internal ID18596267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24018343..24020116hg38UCSC Ensembl
Innerchr2:24241213..24242986hg19UCSC Ensembl
Innerchr2:24094717..24096490hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381774
hg191774
hg181774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2166645, nssv2166650, nssv2166642, nssv2166644, nssv2166643, nssv2166646, nssv2166641, nssv2166647, nssv2166648, nssv2166649
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMFSD2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961020
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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