A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960152



Internal ID18595405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80972416..80982538hg38UCSC Ensembl
Innerchr17:78946216..78956338hg19UCSC Ensembl
Innerchr17:76560811..76570933hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810123
hg1910123
hg1810123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2111471, nssv2111469, nssv2111473, nssv2110673, nssv2111470, nssv2110675, nssv2111468, nssv2110674, nssv2111472, nssv2110672
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960152
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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