A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583167



Internal ID16370576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133106879..133200117hg38UCSC Ensembl
Innerchr2:133864452..133957689hg19UCSC Ensembl
Innerchr2:133580922..133674159hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3893239
hg1993238
hg1893238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920093
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583167
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