A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981158



Internal ID18616357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:75317623..75320879hg38UCSC Ensembl
Innerchr6:76027339..76030595hg19UCSC Ensembl
Innerchr6:76084059..76087315hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383257
hg193257
hg183257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2414766, nssv2414763, nssv2414764, nssv2414769, nssv2414770, nssv2414771, nssv2414767, nssv2414772, nssv2414765, nssv2414768
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFILIP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981158
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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