A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv737478



Internal ID15684748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229626063..229632550hg38UCSC Ensembl
Innerchr1:229761810..229768297hg19UCSC Ensembl
Innerchr1:227828433..227834920hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386488
hg196488
hg186488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549302
Supporting Variants
Samples
Known GenesURB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv737478
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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