A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549113



Internal ID16336522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210551193hg38UCSC Ensembl
Innerchr1:210722554..210724537hg19UCSC Ensembl
Innerchr1:208789177..208791160hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381984
hg191984
hg181984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv800n54
Supporting Variantsnssv736781, nssv736782
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549113
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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