A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000169



Internal ID18742700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1281678..1362354hg38UCSC Ensembl
Innerchr1:1217058..1297734hg19UCSC Ensembl
Innerchr1:1206921..1287597hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3880677
hg1980677
hg1880677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3464101
Samples
Known GenesACAP3, CPSF3L, DVL1, GLTPD1, MIR6726, MIR6727, MIR6808, MXRA8, PUSL1, SCNN1D, TAS1R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000169
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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