A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549112



Internal ID16336521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210551003hg38UCSC Ensembl
Innerchr1:210722554..210724347hg19UCSC Ensembl
Innerchr1:208789177..208790970hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381794
hg191794
hg181794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv800n54
Supporting Variantsnssv736780
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549112
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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