A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961404



Internal ID18249964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46758828..46762021hg38UCSC Ensembl
Innerchr2:46985967..46989160hg19UCSC Ensembl
Innerchr2:46839471..46842664hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383194
hg193194
hg183194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2170195, nssv2170192, nssv2170197, nssv2170196, nssv2170194, nssv2170193, nssv2170198, nssv2170199, nssv2170191, nssv2170190
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSOCS5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961404
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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