A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173033



Internal ID15855641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79006274..79053742hg38UCSC Ensembl
Innerchr1:79471959..79519427hg19UCSC Ensembl
Innerchr1:79244547..79292015hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847469
hg1947469
hg1847469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546629
Supporting Variants
Samples1782681195_A
Known GenesELTD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173033
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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