A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049393



Internal ID18791924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6790764..6965769hg38UCSC Ensembl
Innerchr16:6840765..7015770hg19UCSC Ensembl
Innerchr16:6780766..6955771hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38175006
hg19175006
hg18175006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2708n100
Supporting Variantsnssv3557055
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)nsv1049393
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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