A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968301



Internal ID18603529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34222577..34229367hg38UCSC Ensembl
Innerchr5:34222682..34229472hg19UCSC Ensembl
Innerchr5:34258439..34265229hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg386791
hg196791
hg186791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2697002, nssv2696999, nssv2697003, nssv2697008, nssv2697000, nssv2697005, nssv2697004, nssv2697006, nssv2697007, nssv2697001
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968301
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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