A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962286



Internal ID18597530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20375731..20388201hg38UCSC Ensembl
Innerchr17:20279044..20291514hg19UCSC Ensembl
Innerchr17:20219636..20232106hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3812471
hg1912471
hg1812471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2083850, nssv2082786, nssv2083848, nssv2083849, nssv2083847, nssv2082787, nssv2083851, nssv2083844, nssv2083845, nssv2083846
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC144CP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962286
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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