A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522480



Internal ID15449773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210606592..210675002hg38UCSC Ensembl
Innerchr1:210779936..210848344hg19UCSC Ensembl
Innerchr1:208846559..208914967hg18UCSC Ensembl
Innerchr1:207168331..207236739hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3868411
hg1968409
hg1868409
hg1768409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705847
Samples
Known GenesHHAT
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522480
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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