A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961875



Internal ID18250435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117830670..117831264hg38UCSC Ensembl
Innerchr2:118588246..118588840hg19UCSC Ensembl
Innerchr2:118304716..118305310hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38595
hg19595
hg18595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2200957, nssv2200960, nssv2200963, nssv2200954, nssv2200958, nssv2200959, nssv2200955, nssv2200962, nssv2200956, nssv2200961
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDDX18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961875
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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