A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581248



Internal ID16368657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29115150..29115800hg38UCSC Ensembl
Innerchr2:29338016..29338666hg19UCSC Ensembl
Innerchr2:29191520..29192170hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38651
hg19651
hg18651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904596
Samples
Known GenesCLIP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581248
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