A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960462



Internal ID18249027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31345548..31347615hg38UCSC Ensembl
Innerchr17:29672566..29674633hg19UCSC Ensembl
Innerchr17:26696692..26698759hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382068
hg192068
hg182068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2090820, nssv2090827, nssv2090828, nssv2090826, nssv2090829, nssv2090821, nssv2090825, nssv2090824, nssv2090822, nssv2090823
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)nsv960462
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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