A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981569



Internal ID18616766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:108503063..108511716hg38UCSC Ensembl
Innerchr7:108143507..108152160hg19UCSC Ensembl
Innerchr7:107930743..107939396hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg388654
hg198654
hg188654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2474216, nssv2474219, nssv2474220, nssv2474218, nssv2474222, nssv2474217, nssv2474215, nssv2474214, nssv2474223, nssv2474221
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPNPLA8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981569
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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