A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001454



Internal ID18743985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169418143..169496036hg38UCSC Ensembl
Innerchr1:169387381..169465274hg19UCSC Ensembl
Innerchr1:167654005..167731898hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3877894
hg1977894
hg1877894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704815
Samples
Known GenesCCDC181, SLC19A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001454
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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