A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010029



Internal ID18752560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:114626816..114646501hg38UCSC Ensembl
Innerchr2:115384393..115404078hg19UCSC Ensembl
Innerchr2:115100863..115120548hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3819686
hg1919686
hg1819686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4054n100
Supporting Variantsnssv3580259
Samples
Known GenesDPP10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010029
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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