A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983620



Internal ID18618813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112393438..112398753hg38UCSC Ensembl
Innerchr13:113047752..113053067hg19UCSC Ensembl
Innerchr13:112095753..112101068hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385316
hg195316
hg185316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1973394, nssv1973387, nssv1973385, nssv1973386, nssv1973388, nssv1973393, nssv1973389, nssv1973390, nssv1973392, nssv1973391
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPACA7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983620
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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