A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001201



Internal ID19090418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:213212484..213254678hg38UCSC Ensembl
Innerchr1:213385827..213428021hg19UCSC Ensembl
Innerchr1:211452450..211494644hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3842195
hg1942195
hg1842195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv573n100
Supporting Variantsnssv3484389
Samples
Known GenesRPS6KC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001201
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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