A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961523



Internal ID18250083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164687377..164687877hg38UCSC Ensembl
Innerchr2:165543887..165544387hg19UCSC Ensembl
Innerchr2:165252133..165252633hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2210580, nssv2210575, nssv2210572, nssv2210577, nssv2210574, nssv2210578, nssv2210573, nssv2210579, nssv2210576, nssv2210571
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCOBLL1, SNORA70F
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961523
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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