A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046828



Internal ID19136047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18661498..19289336hg38UCSC Ensembl
Innerchr14:19437975..19877060hg19UCSC Ensembl
Innerchr14:18507975..18947060hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38627839
hg19439086
hg18439086
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1754n100
Supporting Variantsnssv3713442, nssv3528335, nssv3528322, nssv3528329, nssv3713441, nssv3528334, nssv3528333, nssv3713445, nssv3713444, nssv3528331, nssv3528328, nssv3713439, nssv3713440, nssv3528324, nssv3528336, nssv3528325, nssv3528323, nssv3528326, nssv3528332, nssv3528338, nssv3528327, nssv3528330, nssv3528337, nssv3713443
Samples
Known GenesBMS1P17, BMS1P18, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046828
Frequency
Sample Size11257
Observed Gain3
Observed Loss21
Observed Complex0
Frequencyn/a


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