A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000464



Internal ID19089681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43411573..43432628hg38UCSC Ensembl
Innerchr2:43638712..43659767hg19UCSC Ensembl
Innerchr2:43492216..43513271hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3821056
hg1921056
hg1821056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581580
Samples
Known GenesTHADA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000464
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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