A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978382



Internal ID18613587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18907112..18910858hg38UCSC Ensembl
Innerchr17:18810425..18814171hg19UCSC Ensembl
Innerchr17:18751150..18754896hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383747
hg193747
hg183747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2083034, nssv2083040, nssv2083043, nssv2083039, nssv2083037, nssv2083042, nssv2083041, nssv2083038, nssv2083036, nssv2083035
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRPSAP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978382
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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