A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980752



Internal ID18269266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:171401883..171411887hg38UCSC Ensembl
Innerchr5:170828887..170838891hg19UCSC Ensembl
Innerchr5:170761492..170771496hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3810005
hg1910005
hg1810005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2385243, nssv2385251, nssv2385244, nssv2385242, nssv2385248, nssv2385250, nssv2385249, nssv2385247, nssv2385245, nssv2385246
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNPM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980752
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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