A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978437



Internal ID18266956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49403784..49405900hg38UCSC Ensembl
Innerchr17:47481146..47483262hg19UCSC Ensembl
Innerchr17:44836145..44838261hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg382117
hg192117
hg182117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2101793, nssv2101800, nssv2101792, nssv2101798, nssv2101796, nssv2101799, nssv2101795, nssv2101791, nssv2101794, nssv2101797
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPHB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978437
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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