A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000051



Internal ID19089268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75377944..75500783hg38UCSC Ensembl
Innerchr3:75427095..75549934hg19UCSC Ensembl
Innerchr3:75509785..75632624hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38122840
hg19122840
hg18122840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4774n100
Supporting Variantsnssv3733862, nssv3602186, nssv3602155, nssv3602152, nssv3602163, nssv3602167, nssv3733865, nssv3733859, nssv3602154, nssv3602165, nssv3602158, nssv3602166, nssv3602172, nssv3602169, nssv3602187, nssv3602178, nssv3602179, nssv3602173, nssv3602170, nssv3602182, nssv3733867, nssv3602161, nssv3602162, nssv3602168, nssv3733863, nssv3602157, nssv3602153, nssv3602180, nssv3602156, nssv3602181, nssv3602184, nssv3602171, nssv3602177, nssv3602188, nssv3602183, nssv3602159, nssv3733866, nssv3602174, nssv3733864, nssv3733860, nssv3602176, nssv3602175, nssv3733861, nssv3602185, nssv3602164, nssv3602160
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000051
Frequency
Sample Size11257
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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