A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014414



Internal ID18756948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239949097..239999118hg38UCSC Ensembl
Innerchr2:240888514..240938535hg19UCSC Ensembl
Innerchr2:240537187..240587208hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850022
hg1950022
hg1850022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586979
Samples
Known GenesNDUFA10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014414
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