A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980741



Internal ID18269255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:143330764..143334733hg38UCSC Ensembl
Innerchr5:142710329..142714298hg19UCSC Ensembl
Innerchr5:142690522..142694491hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383970
hg193970
hg183970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2383087, nssv2383088, nssv2383084, nssv2383089, nssv2383086, nssv2383082, nssv2383083, nssv2383085, nssv2383080, nssv2383081
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNR3C1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980741
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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