A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545042



Internal ID16332451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1978932..1979778hg38UCSC Ensembl
Innerchr1:1910371..1911217hg19UCSC Ensembl
Innerchr1:1900231..1901077hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38847
hg19847
hg18847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43n54
Supporting Variantsnssv708638
Samples
Known GenesKIAA1751
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545042
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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