A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549117



Internal ID16336526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210554171hg38UCSC Ensembl
Innerchr1:210722554..210727515hg19UCSC Ensembl
Innerchr1:208789177..208794138hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384962
hg194962
hg184962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736812
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549117
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