A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960461



Internal ID18249026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31265678..31267638hg38UCSC Ensembl
Innerchr17:29592696..29594656hg19UCSC Ensembl
Innerchr17:26616822..26618782hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381961
hg191961
hg181961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2091239, nssv2091236, nssv2091237, nssv2091238, nssv2091235, nssv2091230, nssv2091231, nssv2091233, nssv2091234, nssv2091232
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960461
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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