A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704815



Internal ID18656410
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 StatusS
Merged Variantsnsv1001454
Supporting Variants
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)nssv3704815
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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