A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544974



Internal ID15985697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1324404..1350629hg38UCSC Ensembl
Innerchr1:1259784..1286009hg19UCSC Ensembl
Innerchr1:1249647..1275872hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3826226
hg1926226
hg1826226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26n54
Supporting Variantsnssv708535
Samples
Known GenesCPSF3L, DVL1, GLTPD1, MIR6808, TAS1R3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544974
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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