A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591814



Internal ID16032537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133414251..133418172hg38UCSC Ensembl
Innerchr3:133133095..133137016hg19UCSC Ensembl
Innerchr3:134615785..134619706hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg383922
hg193922
hg183922
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8608n54
Supporting Variantsnssv974329, nssv974246, nssv974270, nssv974274, nssv974254, nssv974328, nssv974278, nssv974289, nssv974318, nssv974300, nssv974247, nssv974263, nssv974314, nssv974313, nssv974299, nssv974310, nssv974245, nssv974265, nssv974330, nssv974317, nssv974242, nssv974296, nssv974301, nssv974255, nssv974285, nssv974250, nssv974288, nssv974293, nssv974331, nssv974311, nssv974252, nssv974306, nssv974279, nssv974291, nssv974321, nssv974271, nssv974256, nssv974287, nssv974304, nssv974309, nssv974283, nssv974302, nssv974251, nssv974322, nssv974319, nssv974292, nssv974258, nssv974269, nssv974297, nssv974277, nssv974305, nssv974257, nssv974298, nssv974275, nssv974308, nssv974268, nssv974267, nssv974324, nssv974295, nssv974316, nssv974273, nssv974320, nssv974303, nssv974253, nssv974249, nssv974248, nssv974241, nssv974276, nssv974260, nssv974272, nssv974281, nssv974284, nssv974266, nssv974290, nssv974323, nssv974244, nssv974327, nssv974286, nssv974280, nssv974307, nssv974282, nssv974261, nssv974264, nssv974312, nssv974294, nssv974259, nssv974243, nssv974326, nssv974262, nssv974325, nssv974315
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591814
Frequency
Sample Size17421
Observed Gain73
Observed Loss18
Observed Complex0
Frequencyn/a


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