A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549740



Internal ID16337149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248671697..248705477hg38UCSC Ensembl
Innerchr1:248834998..248868778hg19UCSC Ensembl
Innerchr1:246901621..246935401hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3833781
hg1933781
hg1833781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv740124
Samples
Known GenesOR14I1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549740
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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