A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047731



Internal ID18790262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7183095..7197153hg38UCSC Ensembl
Innerchr16:7233096..7247154hg19UCSC Ensembl
Innerchr16:7173097..7187155hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3814059
hg1914059
hg1814059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2718n100
Supporting Variantsnssv3557083
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)nsv1047731
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer