A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051692



Internal ID18794223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1505070..1866102hg38UCSC Ensembl
Innerchr16:1555071..1916103hg19UCSC Ensembl
Innerchr16:1495072..1856104hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38361033
hg19361033
hg18361033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3718829
Samples
Known GenesCRAMP1L, EME2, FAHD1, HAGH, HN1L, IFT140, IGFALS, MAPK8IP3, MEIOB, MIR3177, MRPS34, NME3, NUBP2, SPSB3, TELO2, TMEM204
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051692
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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