A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010920



Internal ID18753453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12806942..12858224hg38UCSC Ensembl
Innerchr1:12867078..12918079hg19UCSC Ensembl
Innerchr1:12789665..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3851283
hg1951002
hg1851002
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465684, nssv3481473, nssv3479801, nssv3476599, nssv3698765, nssv3698764, nssv3465681, nssv3463893, nssv3698766, nssv3468483, nssv3476760, nssv3481731
Samples
Known GenesHNRNPCL1, LOC649330, 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)nsv1010920
Frequency
Sample Size29084
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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