A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv708533



Internal ID15655803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1321172..1337736hg38UCSC Ensembl
Innerchr1:1256552..1273116hg19UCSC Ensembl
Innerchr1:1246415..1262979hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3816565
hg1916565
hg1816565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv544972
Supporting Variants
Samples
Known GenesCPSF3L, DVL1, GLTPD1, TAS1R3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv708533
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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