A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980621



Internal ID18615821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:24170600..24171813hg38UCSC Ensembl
Innerchr5:24170709..24171922hg19UCSC Ensembl
Innerchr5:24206466..24207679hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2349857, nssv2349859, nssv2349853, nssv2349852, nssv2349851, nssv2349858, nssv2349854, nssv2349856, nssv2349860, nssv2349855
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)nsv980621
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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