A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544969



Internal ID15985692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1290683..1374597hg38UCSC Ensembl
Innerchr1:1226063..1309977hg19UCSC Ensembl
Innerchr1:1215926..1299840hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3883915
hg1983915
hg1883915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708530
Samples
Known GenesACAP3, AURKAIP1, CPSF3L, DVL1, GLTPD1, MIR6726, MIR6727, MIR6808, MXRA8, PUSL1, SCNN1D, TAS1R3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544969
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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