A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010453



Internal ID18752984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246482495..246651750hg38UCSC Ensembl
Innerchr1:246645797..246815052hg19UCSC Ensembl
Innerchr1:244712420..244881675hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38169256
hg19169256
hg18169256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490157
Samples
Known GenesCNST, LOC255654, SMYD3, TFB2M
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010453
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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