A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549152



Internal ID16336561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212828746..212834123hg38UCSC Ensembl
Innerchr1:213002088..213007465hg19UCSC Ensembl
Innerchr1:211068711..211074088hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg385378
hg195378
hg185378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv808n54
Supporting Variantsnssv736865
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549152
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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