A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548992



Internal ID16336401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201209342..201210692hg38UCSC Ensembl
Innerchr1:201178470..201179820hg19UCSC Ensembl
Innerchr1:199445093..199446443hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381351
hg191351
hg181351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734680, nssv734681
Samples
Known GenesIGFN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548992
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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