A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549116



Internal ID16336525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210551984hg38UCSC Ensembl
Innerchr1:210722554..210725328hg19UCSC Ensembl
Innerchr1:208789177..208791951hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382775
hg192775
hg182775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv798n54
Supporting Variantsnssv736811
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549116
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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