A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978407



Internal ID18266926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31193009..31202060hg38UCSC Ensembl
Innerchr17:29520027..29529078hg19UCSC Ensembl
Innerchr17:26544153..26553204hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389052
hg199052
hg189052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2089540, nssv2089543, nssv2089548, nssv2089541, nssv2089542, nssv2089539, nssv2089546, nssv2089547, nssv2089544, nssv2089545
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)nsv978407
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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