A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549007



Internal ID16336416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203711364..203765857hg38UCSC Ensembl
Innerchr1:203680492..203734985hg19UCSC Ensembl
Innerchr1:201947115..202001608hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3854494
hg1954494
hg1854494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174037
Samples1780862401_A
Known GenesATP2B4, LAX1, LINC00260, SNORA77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549007
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