A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961777



Internal ID18597023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55234840..55236211hg38UCSC Ensembl
Innerchr2:55461976..55463347hg19UCSC Ensembl
Innerchr2:55315480..55316851hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381372
hg191372
hg181372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171747, nssv2171740, nssv2171741, nssv2171745, nssv2171746, nssv2171748, nssv2171744, nssv2171743, nssv2171742, nssv2171749
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR4426, RPS27A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961777
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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