A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046274



Internal ID18788805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6550659..6594323hg38UCSC Ensembl
Innerchr16:6600660..6644324hg19UCSC Ensembl
Innerchr16:6540661..6584325hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3843665
hg1943665
hg1843665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557024, nssv3557025
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046274
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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