A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046705



Internal ID18789236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6606773..6635321hg38UCSC Ensembl
Innerchr16:6656774..6685322hg19UCSC Ensembl
Innerchr16:6596775..6625323hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3828549
hg1928549
hg1828549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2704n100
Supporting Variantsnssv3718845
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)nsv1046705
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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