A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000813



Internal ID18743344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:114628878..114643410hg38UCSC Ensembl
Innerchr2:115386455..115400987hg19UCSC Ensembl
Innerchr2:115102925..115117457hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3814533
hg1914533
hg1814533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4054n100
Supporting Variantsnssv3580262, nssv3580260, nssv3580261
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)nsv1000813
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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