A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007443



Internal ID18749974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12785708..12858224hg38UCSC Ensembl
Innerchr1:12845851..12918079hg19UCSC Ensembl
Innerchr1:12768438..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3872517
hg1972229
hg1872229
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n100
Supporting Variantsnssv3472324, nssv3465233, nssv3470468, nssv3482244, nssv3467894, nssv3697942, nssv3468904, nssv3697945, nssv3478044, nssv3472877, nssv3697943, nssv3697938, nssv3697937, nssv3470241, nssv3469255, nssv3480464, nssv3475451, nssv3477395, nssv3467745, nssv3466618, nssv3471001, nssv3467061, nssv3473994, nssv3477294, nssv3697941, nssv3465985, nssv3476053, nssv3469082, nssv3697944, nssv3475724, nssv3466949, nssv3482647, nssv3479891, nssv3473539, nssv3697936, nssv3472586, nssv3464712, nssv3697939, nssv3697940, nssv3476659, nssv3475605, nssv3478460, nssv3472956, nssv3475856, nssv3471954, nssv3472684, nssv3482561, nssv3465759, nssv3478309
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007443
Frequency
Sample Size29084
Observed Gain4
Observed Loss45
Observed Complex0
Frequencyn/a


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