A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv740039



Internal ID15687309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248596802..248623852hg38UCSC Ensembl
Innerchr1:248760103..248787153hg19UCSC Ensembl
Innerchr1:246826726..246853776hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3827051
hg1927051
hg1827051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549720
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv740039
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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