A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3702094



Internal ID19000375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148967480..148991068hg38UCSC Ensembl
Innerchr1:144893406..144916995hg19UCSC Ensembl
Innerchr1:143604763..143628352hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3823589
hg1923590
hg1823590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001908
Supporting Variants
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3702094
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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