A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979137



Internal ID18267654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152389823..152390598hg38UCSC Ensembl
Innerchr2:153246337..153247112hg19UCSC Ensembl
Innerchr2:152954583..152955358hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38776
hg19776
hg18776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2207131, nssv2207134, nssv2207137, nssv2207135, nssv2207136, nssv2207132, nssv2207138, nssv2207130, nssv2207139, nssv2207133
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFMNL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979137
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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