A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv727677



Internal ID15674947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161037536..161041001hg38UCSC Ensembl
Innerchr1:161007326..161010791hg19UCSC Ensembl
Innerchr1:159273950..159277415hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383466
hg193466
hg183466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548059
Supporting Variants
Samples
Known GenesTSTD1, USF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv727677
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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