A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549108



Internal ID16336517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210550357hg38UCSC Ensembl
Innerchr1:210722554..210723701hg19UCSC Ensembl
Innerchr1:208789177..208790324hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381148
hg191148
hg181148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv799n54
Supporting Variantsnssv736766
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549108
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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