A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549160



Internal ID16336569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212830086..212836127hg38UCSC Ensembl
Innerchr1:213003428..213009469hg19UCSC Ensembl
Innerchr1:211070051..211076092hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386042
hg196042
hg186042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv809n54
Supporting Variantsnssv736895, nssv736894, nssv736898, nssv736896, nssv736897
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549160
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer