A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044147



Internal ID18786678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3149392..3392037hg38UCSC Ensembl
Innerchr16:3199393..3442037hg19UCSC Ensembl
Innerchr16:3139394..3382038hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38242646
hg19242645
hg18242645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556960
Samples
Known GenesLINC00921, MEFV, MTRNR2L4, OR1F1, OR1F2P, OR2C1, TIGD7, ZNF200, ZNF263, ZNF75A, ZSCAN32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044147
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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