A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549109



Internal ID16336518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210550406hg38UCSC Ensembl
Innerchr1:210722554..210723750hg19UCSC Ensembl
Innerchr1:208789177..208790373hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381197
hg191197
hg181197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv799n54
Supporting Variantsnssv736768, nssv736767
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549109
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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