A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964970



Internal ID18600205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:174632689..174633689hg38UCSC Ensembl
Innerchr5:174059692..174060692hg19UCSC Ensembl
Innerchr5:173992298..173993298hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386479, nssv2386483, nssv2386480, nssv2386485, nssv2386476, nssv2386478, nssv2386481, nssv2386482, nssv2386484, nssv2386477
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)nsv964970
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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