A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980748



Internal ID18615948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163009275..163010853hg38UCSC Ensembl
Innerchr5:162436281..162437859hg19UCSC Ensembl
Innerchr5:162368859..162370437hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381579
hg191579
hg181579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2383376, nssv2383370, nssv2383377, nssv2383372, nssv2383379, nssv2383375, nssv2383371, nssv2383373, nssv2383374, nssv2383378
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980748
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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