A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528248



Internal ID15108855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167438836..167462620hg38UCSC Ensembl
Innerchr1:167408073..167431857hg19UCSC Ensembl
Innerchr1:165674697..165698481hg18UCSC Ensembl
Innerchr1:164139731..164163515hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3823785
hg1923785
hg1823785
hg1723785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704814
Samples
Known GenesCD247
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528248
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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